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Fetal Cardiology
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Oxford Specialist
Handbooks in
Cardiology
Fetal
Cardiology
Second edition

Dr Nick Archer
Paediatric Cardiologist (retired)
Oxford University Hospitals
and
Former Honorary Clinical Senior Lecturer
University of Oxford, UK

Dr Nicky Manning
Fetal Cardiologist
Great Ormond Street Hospital, London
and
Oxford University Hospitals, UK

1
iv

1
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Forewords to the
first edition
At the heart of fetal medicine and obstetrics, fetal cardiology plays a cru-
cial part in our understanding and observation of fetal disease, as well as in
our knowledge about congenital heart disease. Increasing numbers of adults
have congenital heart disease and yet there is little available that describes
the development, prenatal diagnosis, and treatments available in a con-
cise format. With huge practical experience of the subject, the authors, as
experts in prenatal diagnosis, monitoring and treatment, and in childhood
management of disease, are amply qualified to write what is an amazing
little book that covers this subject in a clear, concise but comprehensive
manner.

Lawrence Impey
Consultant in Obstetrics and Fetal Medicine
The John Radcliffe Hospital
Oxford
2009

Fetal cardiology is a young clinical specialty which was made possible by

the development of high-resolution ultrasound. At its inception in the early
1980s, the expectation was that structural heart defects would most likely
be detected by detailed scanning of the fetal heart in those pregnancies
designated to be at high risk for the presence of fetal cardiac abnormality.
However, it soon became apparent that most fetal heart defects were,
in fact, detected because a heart abnormality was suspected at routine
midtrimester anomaly scanning in pregnancies not deemed to be high risk.
This meant that, from its early days, fetal cardiology has been a coopera-
tive venture shared principally between obstetric ultrasonographers, fetal
medicine practitioners and subspecialist paediatric cardiologists.
It is therefore both symbolic and appropriate that this handbook is c­ o-​
authored by specialists in fetal medicine and paediatric cardiology respect-
ively. Their combined perspective is apparent in the broad-based and logical
approach to the subject, which reflects a ‘real life’ practical experience not
just of fetal cardiac diagnosis, but crucially also of the wider clinical assess-
ment which is so important in counselling. This book will benefit a broad
readership, especially sonographers, nurses, and physicians involved vari-
ously in fetal medicine, obstetrics, paediatric cardiology or adult congenital
heart disease.
It may also be considered testament to the rapid growth in practice,
knowledge, and importance of such a young specialty that this timely
‘handbook’, despite being concise and clinical in content, runs to over
300 merited pages!

Ian Sullivan
Consultant Cardiologist
Great Ormond Street Hospital for Children
London
2009
vi
 

vii

Forewords to the
second edition
Fetal cardiology is relevant to obstetrics as well as paediatrics. Antenatal
detection rates of congenital heart disease are increasing. The role that
the heart may play in the diagnosis and monitoring of fetal disease, such
as growth restriction is also increasing. This little book has established
itself as invaluable to all who encounter the field of fetal cardiology. It was
written, and now updated, by two experts with huge practical experi-
ence of screening, diagnosis, monitoring and treatment, including in utero,
postnatally and in childhood. It offers an excellent introduction to fetal car-
diology and should be essential reading for doctors in fetal medicine and
sonographers.

Lawrence Impey
Consultant in Obstetrics and Fetal Medicine
Oxford University Hospital
2018

It is testimony to the increasingly important role of fetal cardiology that a

timely second edition of this handbook is now available. The new edition
follows the user friendly format of the original. The main emphasis remains
the recognition and assessment of structural heart defects, but there is
also extensive coverage of cardiac aspects of wider fetal medicine con-
cern. Arguably, the most important development in medicine over the past
decade has been the increasingly sophisticated identification of genetic
determinants of development and disease. This edition contains appropri-
ately expanded description of contemporary prenatal genetic assessment
relevant to clinical fetal cardiology. Advanced fetal cardiac imaging
techniques are also included, although it is continuing computer develop-
ment giving rise to steady improvement in the high resolution of “conven-
tional” ultrasound which continues to give the most insight into subtleties of
fetal cardiac physiology. In summary, this welcome new edition successfully
updates a succinct source of the core information required to support and
guide multidisciplinary fetal cardiology practitioners.

Ian Sullivan
Consultant in Paediatric and Fetal Cardiology (retired)
Great Ormond Street Hospital for Children
London
2018
vii
 

ix

Preface to the
first edition
In two decades, fetal cardiology has developed from the ability to recognize
normal and abnormal fetal cardiac structure by ultrasound to a specialty in
its own right. Ultrasound is still at the centre of diagnosis and management
to the extent that all practitioners have to be conversant with it and at least
competent in its use. The nature of the specialty means that professionals
from many different backgrounds are involved and are required to have
some knowledge in areas which are not their primary specialty. Fetal car-
diology now involves so much more than just confirming normality or
diagnosing structural abnormality of the fetal heart. The aim of this hand-
book is to bring together sufficient information in an accessible single source
to allow professionals from many different disciplines to have a sound
understanding of the scope and limitations of fetal cardiac diagnosis and
treatment. We hope that this book will be of practical clinical value to all
involved in fetal cardiac assessment or in the management of feto-​maternal
problems.

Nick Archer
Nicky Manning
Oxford 2009
x
 

xi

Preface to the
second edition
Even in the year 2018, ultrasound is still the standard method for defining
fetal cardiac anatomy and function, and diagnostic expectations and ac-
curacy continue to rise. This is why we have replaced the majority of the
images from the first edition.
However, there is more to assessment of the fetal cardiovascular system
than echocardiography alone and we hope that this new edition again
illustrates this important point.
We are grateful to our colleagues from supporting specialities for their
valuable input to our book, both from their specific clinical contribution but
also their unfailing enthusiasm and encouragement without which we would
still be writing.
In particular, we would like to thank Dr Deirdre Cilliers (Consultant
Geneticist, Oxford), Dr David Black (Consultant Fetal and Paediatric
Cardiologist, Southampton and Oxford), Dr Alex Jones (Consultant
Paediatric Cardiologist, Oxford), and Dr David Lloyd (Clinical Research
Fellow, Evelina Children’s Hospital, London), not only for broadening our
horizons but also for their valuable written contributions to some chapters.
As with the first edition, we hope that this book will serve as an access-
ible source of knowledge and clinical guidance to enable professionals from
different backgrounds to appreciate the scope and limitations of fetal cardi-
ology and to incorporate it appropriately into their clinical work.

Nick Archer
Nicky Manning
Oxford 2018
xii
 

xiii

Contents

Symbols and abbreviations  xv

1 Introduction  1
2 Aetiology of fetal heart disease  5
3 History and examination  23
4 The normal heart  27
5 Indications for fetal echocardiography  39
6 Fetal echocardiography  45
7 Three-​vessel trachea view  63
8 Other investigations  69
9 Structural abnormalities  77
10 Left-​sided abnormalities  83
11 Right-​sided abnormalities  107
12 Septal anomalies  127
13 Abnormal ventriculoarterial connections  141
14 Miscellaneous abnormalities  153
15 Abnormalities at a glance  161
16 Abnormal cardiac position  173
17 Fetal cardiac rhythm  179
18 Cardiac function  205
19 Heart muscle disease  211
20 Cardiac tumours  219
21 Nuchal translucency and the heart  227
22 Hydrops and the heart  231
23 Twins and the heart  241
xvi

xiv CONTENTS

2 4 The heart in the sick fetus  249

25 Pregnancy management of fetal cardiac disease  259
26 Neurodevelopment and fetal cardiac disease  269
27 Postnatal evaluation  275

Index  281
 

xv

Symbols and abbreviations

E cross reference
M website
2D 2-​dimensional
3D 3-​dimensional
4D 4-​dimensional
A anterior
ACE angiotensin-​converting enzyme
AET atrial ectopic tachycardia
Ao aorta
APV absent pulmonary valve
AS aortic stenosis
ASD atrial septal defect
AV atrioventricular
AVNRT atrioventricular nodal re-​entry tachycardia
AVRT atrioventricular re-​entry tachycardia
AVSD atrioventricular septal defect
bpm beats per minute
CAUD caudal
cAVSD complete atrioventricular septal defect
CEPH cephalad
cffDNA cell-​free fetal DNA
CGA comparative genomic hybridization
CHB compete heart block
CHD congenital heart disease
C:T cardiac:thoracic (ratio)
CTG cardiotocograph
CVS chorionic villus sampling
CW continuous wave
DA ductus arteriosus
DC dichorionic
DCM dilated cardiomyopathy
DORV double outlet right ventricle
DZ dizygotic
ECG electrocardiogram
FISH fluorescence in situ hybridization
HCM hypertrophic cardiomyopathy
HLHS hypoplastic left heart syndrome
IVC inferior vena cava
IVS interventricular septum
JET junctional ectopic tachycardia
LA left atrium
xvi

xvi SYMBOLS AND ABBREVIATIONS

LQTS long QT syndrome

LV left ventricle/​ventricular
LVOT left ventricular outflow tract
m/​sec metres per second
MAPCA major aortopulmonary collateral artery
min minute(s)
MC monochorionic
MPLA multiplex ligation-​dependent probe amplification
MRI magnetic resonance imaging
MV mitral valve
MZ monozygotic
NSAID non-​steroidal anti-​inflammatory drug
NT nuchal translucency
P posterior
PA pulmonary artery
PAC premature atrial contraction
PAIVS pulmonary atresia with intact ventricular septum
pAVSD partial atrioventricular septal defect
PCR polymerase chain reaction
PI pulsatility index
PJRT permanent junctional reciprocating tachycardia
PS pulmonary stenosis
PV pulmonary valve
PW pulsed wave
QTc corrected QT interval
R right
RA right atrium
RV right ventricle
RVOT right ventricular outflow tract
sec second(s)
Sp spine
SR sinus rhythm
SSRI selective serotonin re-​uptake inhibitor
St stomach
STIC spatiotemporal image correlation
SVC superior vena cava
SVE supraventricular ectopic
SVT supraventricular tachycardia
TAPVD total anomalous pulmonary venous drainage
TGA transposition of the great arteries
TR tricuspid regurgitation
TTTS twin–​twin transfusion syndrome
TV tricuspid valve
U/​S ultrasound
VSD ventricular septal defect
  

Fig. 6.2  Colour flow Doppler interrogation of interventricular septum (IVS) in 4-​chamber

view making presence of 1 or more VSDs much clearer than image alone. In colour, signal
was blue indicating flow from right (RV) to left ventricle (LV).

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 2

(a)

(b)

Fig. 10.2  (a) PW Doppler signal in pulmonary venous confluence (v) showing high
velocity poorly pulsatile signal indicative of obstruction. (b) Colour flow signal with
aliasing in a confluence behind LA.

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re 2q
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Fig. 10.5  4-​chamber view with colour flow Doppler showing L-​to-​R flow across
foramen ovale in left heart obstruction.

Fig. 10.9  Long-​axis view of aortic arch with red colour flow Doppler (CFD) signal
indicating flow towards the transducer in the arch, that is to say, retrograde filling
from the DA.

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re q
med-9780198766520-Plate.indd 3 req 26-Jun-18 1:41:33 PM
 4

Fig. 10.10  Oblique view of IAS with CFD showing aliasing (i.e. high velocity) in the
L-​to-​R flow across the foramen ovale. Severe left heart obstruction.

u est u est
re 4q
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Fig. 11.6  Long-​axis view with colour flow Doppler showing retrograde flow in DA
in PAIVS.

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 6

(b)

(c)

Fig. 11.8  (b) Same view using colour flow Doppler in ventricular systole showing
forward flow RV to PA with some acceleration across PV. (c) Same view with colour
flow Doppler in ventricular diastole showing PA to RV flow, marked PI in tetralogy of
Fallot with APV.

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re 6q
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Fig. 12.4  4-​chamber view image showing apparently small muscular VSD which with
colour flow Doppler is seen to be much larger. The blue Doppler signal reflects flow
from RV to LV, the predominant direction in flow for fetal VSD.

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 8

(a)

(b)

Fig. 24.2  Oblique 3-​vessel view showing constriction at the PA end of the DA

with increase in blood velocity across that region shown on colour flow Doppler.
(a) (plain) and (b) (annotated).

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Chapter 1 1

Introduction

Role of fetal cardiology  2

Scope of fetal cardiology  3
Limitations of fetal cardiology  4
2

2 Chapter 1   Introduction

Role of fetal cardiology

Fetal cardiology contributes to many areas of fetal care including:
• Diagnosis and management of fetal cardiac disease:
• This is now an integral part of fetal assessment and therefore incor-

porates prenatal diagnosis, fetomaternal medicine, genetics, neonat-

ology, paediatric cardiology, and cardiac surgery.
• A fetal cardiac service must have close interaction with these other
specialties, ideally being sited on the same campus.
• Communication between practitioners in these different specialties
as well as with the families involved is key to delivering optimum
management.
• It is important that professionals of many disciplines understand the
scope and the limitations of what fetal cardiac assessment has to offer.
 

Scope of fetal cardiology 3

Scope of fetal cardiology

The following roles are part of fetal cardiac care:
• Screening is normally performed by sonographers or obstetricians
but fetal cardiologists need to be involved in training, updating, and
maintaining their skills.
• Diagnosis or exclusion of structural congenital heart disease (CHD) in
those considered at increased risk.
• Assessment and management of fetal arrhythmias.
• Assessment of functional heart disease in many settings.
• Cardiac assessment may contribute importantly to possible syndrome
evaluation.
• Counselling in detail about the cardiac diagnosis and its fetal and
postnatal implications is an integral part of detailed cardiac assessment.
• Allowing informed decision-​making in terms of invasive testing ±
continuation of the pregnancy.
• Planning pregnancy management, and occasionally intervention.
• Planning delivery details.
• Alerting those involved in neonatal management.
• Preparing a postnatal plan.
• Helping in discussions about recurrence risk.
4

4 Chapter 1   Introduction

Limitations of fetal cardiology

Families and professionals need to be aware of the limitations of even an
expert fetal cardiac evaluation:
• Time-​consuming for patients and practitioners.
• Fetal echocardiographic diagnoses are not always right/​complete.
• Image quality is influenced by:
• maternal body mass index (BMI)
• gestation
• fetal position
• number of fetuses
• liquor volume.

• Some lesions are hard to diagnose and impossible to rule out

eg: coarctation of the aorta, total anomalous pulmonary venous
drainage (TAPVD), coronary abnormalities.
• It is not always possible to give a precise prognosis for lesions detected
in utero.
• Normal variants and findings of uncertain significance cause unnecessary
anxiety.
 

Chapter 2 5

Aetiology of fetal heart

disease

Introduction  6
Maternal factors  8
Genetic factors  12
Genetic causes  14
Risk of associated non-​cardiac anomalies  18
Prevention of congenital heart disease  20
Fetal origins of health and disease  21
6

6 Chapter 2   Aetiology of fetal heart disease

Introduction
• The incidence of CHD is approximately 8:1000 live births, and is higher
in the antenatal population.
• Aetiology:
• environmental factors
• a genetic predisposition
• specific genetic causes are increasingly being identified.

• Epigenetic factors may modify the phenotypic cardiac manifestation.

• Approximately 40% of fetuses with CHD have additional non-​cardiac
anomalies:
• structural
• syndromic
• chromosomal
• abnormal microarray.

• Consanguinity is a risk factor for abnormalities including cardiac.

• Antenatal identification of aetiology allows accurate counselling.
• Counselling includes discussion of:
• the cardiac lesion and its evolution, in utero and postnatally
• the longer-​term prognosis
• risk of non-​cardiac anomalies
• the risk for recurrence in subsequent pregnancies.

• In spite of increasing knowledge in this area, for the majority of cases no

specific cause can be identified.
 

Introduction 7
8

8 Chapter 2   Aetiology of fetal heart disease

Maternal factors
Any genetically determined abnormality in either parent clearly has a rele-
vant risk to offspring. It is unclear as to whether or not other paternal
factors are relevant.
Some maternal conditions are recognized to increase the risk for CHD
in the fetus.
Diabetes mellitus
• Type 1 diabetes (pre-​gestational diabetes) increases the risk of CHD
to 3–​5%:
• Hyperglycaemia modifies proliferation and migration of neural

crest cells.
• Poor glycaemic control in the 1st trimester increases the risk for all

anomalies including cardiac.

• The risk for type 2 diabetes, controlled with metformin between
pregnancies, is harder to define and may also be determined by
glycaemic control in early pregnancy:
• If there is a need to start insulin in the 1st trimester, the risk for

CHD might be similar to type 1 diabetes.

• Gestational diabetics, by definition, should have normal blood glucose
levels in the 1st trimester, but higher levels later and therefore there is
an increased risk for fetal CHD.
• Poor control during pregnancy for all diabetics increases the risk for
fetal hyperinsulinism and macrosomia with associated hypertrophic
cardiomyopathy which resolves spontaneously postnatally.
• Specific cardiac lesions seen in fetuses of diabetic mothers include:
• ventricular septal defect (VSD)
• transposition of the great arteries (TGA)
• double outlet right ventricle (DORV)
• heterotaxy
• hypoplastic left heart syndrome
• common arterial trunk.

Phenylketonuria
• Phenylketonuria (PKU) is an autosomal recessive single gene disorder
causing high maternal levels of phenylalanine (which crosses the placenta
and is teratogenic):
• Associated with 10–​15% increased risk of CHD if mother not

on diet.
• Also growth retardation and microcephaly.

• Cardiac lesions associated with PKU include:

• tetralogy of Fallot
• coarctation of the aorta
• VSD
• complex lesions.

Therapeutic maternal drug exposure

Maternal medications which cross the placenta are recognized to increase
the risk for all structural anomalies including cardiac, and include:
• anticonvulsant therapy
 

Maternal factors 9

• lithium
• angiotensin-​converting enzyme (ACE) inhibitors
• antidepressants
• non-​steroidal anti-​inflammatory drug (NSAIDs)
• retinoic acid.
Anticonvulsant therapy
• The risk for CHD is probably not as high as previously thought,
especially if high-​dose folic acid has been taken prior to conception:
• The risk of teratogenicity must be balanced against morbidity and

mortality of seizures during (and after) pregnancy.

• The risk is higher in women requiring polytherapy.
• Risk for sodium valproate > phenytoin > carbamazepine
> phenobarbitone and is probably dose related.
• Newer drugs, e.g. lamotrigine, probably do not increase the risk for
CHD and therefore are the drugs of choice if appropriate.
• Cardiac lesions include:
• VSD
• atrial septal defect (ASD)
• pulmonary stenosis (PS)
• aortic stenosis (AS).

Lithium
• Historically considered high risk particularly for Ebstein’s anomaly but
recent studies have not confirmed this and the risk is now considered to
be low.
ACE inhibitors
• ACE inhibitors are widely used for maternal hypertension but are
discontinued in the 2nd and 3rd trimesters because of their association
with fetopathy.
• Recent evidence suggests they could be teratogenic if used in 1st
trimester, causing various anomalies including cardiac, perhaps by
inducing fetal hypotension.
Antidepressants
• Selective serotonin re-​uptake inhibitors (SSRIs) are widely used and
appear safe with the possible exception of paroxetine which may be
associated with an increased incidence of ASDs and VSDs.
• Studies give conflicting information and overall the increased risk, if
present, is small and maternal well-​being is a priority.
NSAIDs
• This group of drugs is used postnatally specifically to close the ductus
arteriosus in premature babies in whom the duct has failed to close
spontaneously.
• There is a risk that use of these drugs antenatally could cause premature
closure of the duct in utero leading to serious consequences to
haemodynamics including:
• right heart failure
• hydrops
• complications for lung vasculature development.
10

10 Chapter 2   Aetiology of fetal heart disease

• When this group of drugs is used prenatally for tocolysis, monitoring

during the 1st week of use is essential:
• Changes are reversible if the NSAID is stopped.

• Use of NSAIDs for maternal analgesia (which may be bought over the
counter) carries a similar risk.
Retinoic acid
• A vitamin A derivative prescribed for acne.
• Widely recognized for its teratogenicity, including cardiac defects in the
form of conotruncal and arch anomalies.
• Women are advised to use contraception for at least 1 month after
finishing treatment.
Non-​therapeutic drug exposure
• Risks for this category are hard to define, partly as information about
quantity and timing of consumption may be incomplete.
Alcohol
• Alcohol consumption in early pregnancy is common and may be
associated with an increased risk of CHD.
• High and prolonged alcohol intake is teratogenic and may result in
the fetal alcohol syndrome with a combination of anomalies including
cardiac.
• ‘Binge drinking’ in the 1st trimester presents the highest risk.
• Risk of CHD depends on intake and timing:
• Up to 30% in cases of fetal alcohol syndrome.
• Mainly for septal defects and tetralogy of Fallot.

• Ethanol probably interferes with protein synthesis.

Cocaine and marijuana
• Notoriously difficult to quantify and probably under-​reported but the
risk is generally considered to be increased.
Maternal infections
• Mothers reporting a febrile illness during the 1st trimester have a 2-​fold
increased risk of CHD, especially for obstructive lesions.
Rubella
• Maternal infection with rubella is associated with an increased risk of
structural CHD, in addition to deafness and cataracts.
• 80% risk of congenital anomalies if acquired during the 1st trimester.
• Rubella vaccination is contraindicated during pregnancy as it may be
associated with congenital anomalies.
Monochorionic twins
See E Chapter 23.
Assisted reproduction
The risk is hard to define, especially as a significant number of these
pregnancies will be multiple, with their own risk see E Chapter 23.
 

Maternal factors 11
12

12 Chapter 2   Aetiology of fetal heart disease

Genetic factors
• Even in the absence of a recognizable genetic aetiology:
• After one pregnancy with CHD, the risk for recurrence in a subse-

quent pregnancy rises from approximately 1% (8:1000) background

risk to 2–​3%.
• For 2 previously affected children, the risk rises to 10%.
• If a parent has CHD, the risk to their offspring is between 3% and

20%, depending on the cardiac lesion and is higher for maternal than
paternal CHD.
• In approximately 50% of recurrences the cardiac lesion will be the

same as in the index case.

• Overall 30–​40% of prenatally diagnosed CHD are associated with non-​
cardiac anomalies.
 

Genetic factors 13
14

14 Chapter 2   Aetiology of fetal heart disease

Genetic causes
The genome
• Each cell has 23 pairs of chromosomes:
• 22 pairs of autosomes
• 1 pair of sex chromosomes.

• One of each chromosome pair is inherited from each parent.

• These chromosomes carry about 21,000 genes.
• Genetic causes of CHD can be disorders of either:
• chromosomes
• single genes.

• Genetic causes of CHD may be either:

• isolated cardiac abnormalities
• include non-​cardiac components (syndromes).

• Genetic disorders are commonly de novo or can be inherited from a

parent.
• Inherited genetic conditions can show variable penetrance and thus not
be clinically apparent in a parent even when present.
• If there is a known genetic condition in a family then prenatal genetic
diagnosis may be possible.
Chromosomal disorders—​syndromic
Numerical (aneuploidy)
• The human diploid chromosome complement is 46 and any change in
this number is described as aneuploidy.
• The error usually arises as a result of non-​disjunction at the time of cell
division and can affect the autosomes (chromosomes 1–​22) or the sex
chromosomes (X and Y).
• All numerical chromosome anomalies have a strong association with
CHD as well as other structural anomalies, many of which may be
detected prenatally (see Table 2.1).
• In trisomies, there is an extra chromosome (46 + 1); in monosomies,
there is loss of a chromosome (45).
• Aneuploidy is the most frequently prenatally encountered chromosome
abnormality.
• Common aneuploidies are described in Table 2.1.
Structural
• This group includes chromosome microdeletions, duplications,
translocations, and other rearrangements.
• Deletions are more commonly associated with CHD and the size of the
deletion will determine whether it can be detected by microscopy or
whether specific molecular cytogenetic techniques are required.
• Karyotyping (E Chapter 8) can detect larger deletions.
• Microarray (E Chapter 8) is the preferred test as it detects smaller
changes.
• Fluorescence in situ hybridization (FISH, E Chapter 8) can be
used if looking for a specific chromosomal diagnosis such as 22q11
abnormalities.
 

Genetic causes 15

Table 2.1  Commonly identified aneuploidies and associated cardiac

lesions
Syndrome Chromosome Incidence Frequency of Commonest cardiac
anomaly (live births) cardiac lesions lesions
Down +21 *1:700 40–​50% Atrioventricular septal
syndrome defect (AVSD)
VSD
ASD
Tetralogy of Fallot
Patau +13 *1:9500 80% ASD
syndrome VSD
Complex lesions
Edward +18 *1:6000 100% VSD
syndrome ASD
DORV
Valvar dysplasia
Turner XO 1:2500 35% Bicuspid aortic valve
syndrome Coarctation
Hypoplastic left heart

* Risk increases with advancing maternal age.

• Many deletions and duplications occur de novo and some of the cardiac
diagnoses may not be detectable prenatally such as supravalvar aortic
stenosis and pulmonary artery branch stenosis.
• If one family member is affected, definitive prenatal diagnosis may be
possible.
• Structural chromosomal abnormalities so far defined include those listed
in Table 2.2:
• 22q11 deletion (Di George syndrome) is the commonest detected

in utero.
• 22q11 duplication is being increasingly detected with features not

unlike 22q11 deletion.

• Williams (Beuren) syndrome is rarely suspected antenatally.

Chromosomal disorders—​non-​syndromic
• Microduplications and deletions are increasingly found to be contributing
to isolated heart malformations.
• Tetralogy of Fallot is commonly associated with these chromosomal
variants.
• Many of these deletions and duplications may also be seen with
syndromic disorders reflecting the variability of the phenotype.
• Non-​penetrance or a syndromic phenotype may be present in other
family members.
• Microarrays will identify these chromosomal disorders (E Chapter 8).
• These chromosomal disorders may be identified by whole genome
sequencing, both as causal and as incidental findings.
16

16 Chapter 2   Aetiology of fetal heart disease

Table 2.2  Examples of structural chromosomal abnormalities with CHD

Syndrome Chromosomal Frequency of cardiac Common cardiac
anomaly lesions (live birth incidence) malformations
1p36 deletion 1p36 deletion 40–​70% Many structural lesions,
syndrome cardiomyopathy in
childhood
Williams 7q11 deletion >80% Supravalvar AS,
syndrome (1:10,000) supravalvar PS
(1:10000)
Kleefstra 9q34 deletion 50% ASD/​VSD, tetralogy
syndrome of Fallot, coarctation
aorta, bicuspid aortic
valve, PS
Jacobsen 11q23 deletion 56–​70% VSD, atrioventricular
syndrome valve abnormalities,
coarctation, hypoplastic
left heart syndrome,
complex lesions
DiGeorge 22q11 deletion 85%(1:4000) Tetralogy, interrupted
syndrome aortic arch, pulmonary
atresia + VSD, common
arterial trunk
Cat eye 22q11inv/​dup 60–​70% TAPVD, ASD, PDA,
syndrome tetralogy, complex
lesions

Single gene disorders—​syndromic

• There are many single gene disorders involved in syndromic CHD (see
Table 2.3).
• These may follow autosomal dominant, autosomal recessive, or X-​
linked inheritance patterns.
• Penetrance and expression vary and many arise as de novo mutations.
• It may be possible to detect the condition prenatally if there is a
confirmed mutation identified in a family member.
• Single gene tests (sequencing the DNA) are usually used to confirm the
disorder suspected clinically in a patient.
• Increasingly, gene panel tests are used to test for single gene disorders,
e.g. Noonan syndrome.
• In future, whole genome sequencing will become increasingly available
to test for these disorders.
• Genotype–​phenotype correlations occur in syndromic CHD conditions
with multiple causative genes and this may help direct clinical
management:
• For example, PS occurs commonly in patients with Noonan syn-

drome caused by PTPN11 or SOS1 gene mutations, whereas RAF1

or RIT1 gene mutations are associated with a higher chance of
cardiomyopathy.
 

Genetic causes 17

Table 2.3  Examples of single gene syndromic disorders with CHD

Syndrome Associated Frequency of Most common cardiac
gene cardiac lesions malformations
CHARGE CHD7 75–​80% Tetralogy of Fallot, AV
canal defects, aortic arch
anomalies
RASopathy Many Noonan PS, hypertrophic
disorders genes, most syndrome 80% cardiomyopathy (Noonan
(commonest: common Costello syndrome and Leopard), arrhythmias
Noonan syndrome) PTPN11 45–​60%, (Costello) ASD,VSD
Alagille JAG1 93% PS, tetralogy of Fallot, PA,
septal defects, complex
Holt–​Oram TBX5 75% ASD, VSD, conduction
defects
Ellis–​van Creveld EVC 50–​60% ASD, AVSD, persistent left
superior vena cava
VACTERL No known 75% ASD, VSD, tetralogy of
gene Fallot
Tuberous sclerosis TSC 1 Approx. 50% of Cardiac rhabdomyomata,
(E Chapter 20) TSC 2 infants have cardiac usually multiple
tumours

• Confirming a diagnosis would also help determine the recurrence risk:

• It may also allow prenatal testing or pre-​implantation genetic diag-

nosis to be offered.
• Some of the more common single gene disorders with CHD are listed
in Table 2.3
Single gene disorders—​non-​syndromic
• Non-​syndromic CHD can be caused by a single gene disorder or by a
multifactorial inheritance pattern.
• Many of the genes involved in isolated cardiac anomalies display
incomplete or non-​penetrance which can complicate diagnosis.
• Many of the genes that are involved in non-​syndromic CHD are
also involved in syndromic single gene disorders, demonstrating the
variability of the phenotype.
• Consider investigating these genes where there are two or more 1st-​or
2nd-​degree family members with a congenital cardiac malformation.
• Cardiac gene panel tests or whole genome sequencing can be used
to identify mutations although these mutations are still identified in
relatively few patients.
• An example of a gene involved in non-​syndromic CHD is the NKX2.5
gene which usually causes autosomal dominant ASD and atrioventricular
conduction defects but can cause lesions that are detectable in the fetus.
18

18 Chapter 2   Aetiology of fetal heart disease

Risk of associated non-​cardiac anomalies

• In clinical practice, it is either the fetal cardiac anomaly or a non-​cardiac
anomaly which starts the process of consideration of whether or not
there is an underlying genetic cause.
• If a cardiac anomaly is identified, it is important to determine whether
this is an ‘isolated’ finding or whether it is associated with other ‘non-​
cardiac anomalies’, structural, chromosomal, or syndromic.
• Some cardiac lesions have a stronger association with non-​cardiac
anomalies and vice versa, these are summarized in Boxes 2.1 and 2.2,
and Table 2.4.

Box 2.1  Cardiac lesions with a lower association

with non-​cardiac anomalies
• Transposition of the great arteries
• Double inlet left ventricle
• Hypoplastic left heart syndrome
• Pulmonary atresia with intact septum
• Total anomalous pulmonary venous drainage
• Congenitally corrected transposition of the great arteries
• Ebstein anomaly.

Box 2.2  Cardiac lesions with a higher association

with non-​cardiac anomalies
• AVSD
• VSD
• Tetralogy of Fallot (including absent pulmonary valve syndrome)
• Pulmonary atresia with VSD
• Common arterial trunk
• Interrupted aortic arch
• Coarctation
• Dysplastic pulmonary valve.
 

Risk of associated non-cardiac anomalies 19

Table 2.4  Associated non-​cardiac anomalies for specific cardiac lesions

Cardiac lesion Risk of non-​cardiac Commonest syndromes
anomaly
AVSD 50%+ Trisomies 21,13, and 18
Various other syndromes
VSD 10–​20% Trisomies 21, 13, and 18
(depending on site) 22q11 deletion syndrome
Other structural anomalies
Tetralogy of Fallot, including 6–​20% Trisomies 21, 13, and 18
absent pulmonary valve 22q11 deletion syndrome
syndrome Alagille
VACTERL
CHARGE
Other structural anomalies
Pulmonary atresia with VSD 25%+ 22q11 deletion syndrome
Alagille syndrome
Common arterial trunk 40% 22q11 deletion syndrome
Interrupted aortic arch 10–​25% 22q11 deletion syndrome
Coarctation of the aorta 10% Turner syndrome
Pulmonary valve dysplasia 50%+ Noonan syndrome
20

20 Chapter 2   Aetiology of fetal heart disease

Prevention of congenital heart disease

• Primary prevention of CHD remains a challenge.
• Specific aetiologies may be avoidable:
• Educating about risks of consanguinity.
• Avoiding known teratogenic drugs.
• Keeping rubella immunization rates high.

• Evidence suggests that high-​dose folic acid reduces the risk for
recurrence by up to 50%.
• Folate supplementation may also reduce severity of CHD.
 

Fetal origins of health and disease 21

Fetal origins of health and disease

• Mechanisms exist within the fetus which can influence organ
development in response to altered resource availability.
• These factors may include:
• changes in placental function
• shared placental circulation as in monochorionic twins

(E Chapter 23)
• changes in maternal health and nutrition.

• The relevant specific resources are numerous and include:

• metabolic substrates such as glucose, amino acids, vitamins, trace

elements, oxygen
• hormonal signals which may be stimulated by the maternal

environment.
• Variation in the availability of these resources in pregnant animals can
cause significant changes in the growth and development of fetal organs,
sometimes with lifelong effects on their structure and function thus
altering offspring phenotype.
• Epigenetic mechanisms including DNA methylation, may alter gene
expression, and are therefore considered to be responsible for the
altered phenotype.
• These mechanisms may allow for preferential development of essential
organs, as in the ‘brain-​sparing effect’ in growth-​restricted fetuses with
relatively large heads and small bodies.
• Longer-​term effects of these changes are termed ‘developmental
programming’ and may be:
• adaptive to improve health and survival, or
• maladaptive leading to organ dysfunction and/​or disease.

• Trade-​offs may also occur within organs.

• Growth-​retarded fetuses may have a low nephron density compensated
for by nephron hypertrophy, resulting in similarly sized kidneys to those
of normal fetuses but they are more prone to early hypertension and to
renal failure in later life.
• Many human diseases are thought to result from maladaptive
developmental programming.
• Cardiovascular diseases which may be influenced by such programming
include:
• hypertension
• coronary heart disease
• stroke
• atherosclerosis.

• Fetuses with CHD may be more vulnerable to developmental

programming effects; they may have:
• lower birth weights
• abnormal cerebral to placental resistance ratios promoting the

brain-​sparing effect
• significantly altered haemodynamics, especially in duct-​dependent

lesions and TGA.
2
 

Chapter 3 23

History and examination

History 24
Examination 26
24

24 Chapter 3   History and examination

History
Introduction
Assessment of the fetal cardiovascular system should begin with sufficiently
accurate information to allow a detailed and full evaluation to be performed
in order to permit appropriate management and counselling. Aspects of
the history are considered under three headings of information that should
be available before investigation is performed and in some cases before re-
ferral to a fetal cardiac clinic. Much of the following information should be
available in maternity notes but specific details often need clarifying.
Parental history
Information that may influence the assessment includes:
Both parents
Relevant points to cover, using help from other relatives or interpreters if
necessary:
• Clarify reason for, limitations of, and expectations from attendance.
• Consanguinity, of relevance particularly in:
• isomeric states
• cardiomyopathy presenting in the fetus
• multisystem structural abnormalities.

• Presence of any of the following in either parent:

• Autosomal dominant condition with cardiac component likely to be

apparent in the fetus.
• Autosomal dominant cardiac condition with possibility of fetal detec-

tion (e.g. long QT syndrome (LQTS)).

• CHD—​risk to fetus for CHD is variable depending on the lesion and

the parent affected (E Chapter 2).

• Acquired heart disease such as dilated cardiomyopathy, isolated mi-

tral valve prolapse, and arrhythmogenic right ventricular cardiomyop-

athy, all of which have strong genetic components although the latter
two are rarely detected in children.
• Previous child with CHD, recurrence risk dependent on cause; see
E Chapter 2. Ascertain diagnosis and outcome of affected case as this
is important for counselling.
Maternal
Relevant points with respect to the intrauterine environment are:
• Diabetes—​including present or previous gestational diabetes
(E Chapters 19 and 24).
• Definite or suspected viral infection in 1st trimester may be
relevant to structural lesions in the fetus, or later when myocarditis,
cardiomyopathy, or hydrops may be consequences.
• Rubella immunity status.
• Drugs including alcohol exposure in pregnancy.
• Diseases which may impact fetal cardiovascular health:
• Hypertension
• Collagen vascular disease which may be subclinical and is associated

with fetal heart block and myocardial dysfunction.

• Thyrotoxicosis producing fetal tachycardia (usually sinus).
 

History 25

Paternal
Known factors relevant to the risk or type of CHD that are specifically
father related are not clear; there is conflicting evidence on the relationship
between paternal age and risk of CHD. The relationship between various
types of assisted reproduction and the risk of CHD is complex; maternal
or paternal factors may be important and this information is regarded as
confidential thus ascertaining it as part of a clinical fetal cardiac assessment
is not accepted practice.
Family history
Many pieces of information offered are not relevant to fetal risk of cardio-
vascular problems but often increase parental and professional awareness
and anxiety. The following should be considered:
• Structural CHD in more distant than 1st-​degree relative of fetus
currently not thought to increase the risk, but more than one 2nd-​
degree relative definitely or very likely affected warrants careful thought
and individual consideration.
• Acquired heart disease with genetic basis in the wider family may affect
fetus, such as dilated cardiomyopathy.
• Syndromes and non-​cardiac congenital abnormalities more distant than
1st-​degree relative unlikely to increase risk of CHD but details should
be clarified.
Rarely after careful discussion of advantages and disadvantages is it appro-
priate to instigate medical evaluation of other family members such as sib-
lings of the fetus, or parental siblings. This may be sensitive and is usually
better left until after the pregnancy but may be considered when the fetal
diagnosis suspected is:
• LQTS (E p. 197)
• Complete heart block (E pp. 200–3)
• Marfan or more likely Loeys–​Dietz syndrome as Marfan syndrome is
very rarely apparent on fetal scanning, cardiac or general.
Pregnancy history
The following information should be documented if available; absence of
information should also be recorded:
• Maternal hypertension, glycosuria.
• Assisted conception.
• Single or multiple; if multiple what chorionicity and amnionicity
(E p. 244).
• Screening performed: NT, atrioventricular (AV) valve regurgitation
(particularly tricuspid regurgitation (TR)) in early gestation, biochemical
markers, general anomaly scan.
• Gestation and how determined.
• Any known or suspected fetal anomalies.
• Fetal karyotype.
26

26 Chapter 3   History and examination

Examination
Introduction
Parents may have medical notes and significant information is sometimes
only obtained from these. It is rarely necessary to examine a parent but
general observation can provide diagnostic clues relevant to fetal cardiac
assessment. Parental physical signs obtained from the notes are considered
on E pp. 24–5 but meeting the parents in the clinic may provide additional
important information.
Parental
Look out for:
• Possible syndromes previously unrecognized.
• In a fetal cardiac clinic, the following may be first suspected in a parent:
• Noonan syndrome
• Tuberous sclerosis
• Alagille syndrome.

• Maternal oedema (refer to midwife/​obstetrician).

Other family members
Medical physical examination of other family members will only very rarely
be necessary or appropriate (E p. 25) and is better done by referral to a
geneticist.
 

Chapter 4 27

The normal heart

Embryology  28
Anatomy (for echocardiography)  30
The fetal circulation  34
28

28 Chapter 4   The normal heart

Embryology
• In the first 20 days of development, the human embryo has no
cardiovascular structure and nutrition is achieved by diffusion.
• Development of the heart begins in the 3rd week after fertilization and
is complete by the end of week 8.
• The heart starts to beat around day 22.
• By week 12, the heart is 8mm long and has moved into the chest;
thereafter it undergoes a period of growth and by 20 weeks it is
20mm long.
• The older theory of a single heart tube undergoing a series of complex
folding processes has now been superseded as molecular evidence
demonstrates that the primary heart tube forming in week 3 is involved
in fusion with different heart fields:
• The first heart field arises from the cardiac crescent and gives rise to

the left ventricle.

• The second heart field fuses with the primary cardiac tube and gives

rise to the right ventricle and outflow tracts from its ventral portion
and the atria from the dorsal portion (also referred to as the tertiary
heart field).
• A further contribution from migrating cardiac neural crest cells enables
division of the common arterial trunk into the aorta and pulmonary
artery and also gives rise to the coronary circulation.
• ‘Ballooning’ of specific areas of the tube produces the four chambers of
the heart.
• Meanwhile, looping, septation, and spiralling of the tube occur to
establish a heart with normally connected vessels and with two separate
sides functioning in parallel during the fetal period but able to function in
series after birth.
Relevance to structural cardiac anomalies
Development of the heart is complicated and, at all stages, susceptible both
to genetic and environmental factors which can modify the process and re-
sult in cardiac anomalies.
Some of these factors have been identified, e.g. those influencing the
second heart field:
• Chromosome 22q11
• Maternal diabetes.
 

Embryology 29
30

30 Chapter 4   The normal heart

Anatomy (for echocardiography)

Introduction
A sequential approach to describing the anatomy of the heart enables a
thorough echocardiographic examination to be carried out. Each chamber
and vessel has its own identifying features, thus allowing recognition of each
structure. Chamber and vessel identity cannot always be assumed simply
by position and must, whenever possible, be defined by morphological fea-
tures, many of which can be demonstrated with ultrasound.
Identification of cardiac structures enables the cardiac connections to be
described. See Table 4.1 and Fig. 4.1.
Normal fetal cardiac position and axis
• The fetal heart is positioned in the left side of the chest with its apex
towards the left at approximately 45 degrees to both sagittal and
coronal planes.

Table 4.1  Normal cardiac connections

Right side Left side
Venoatrial Superior and inferior vena cavae Pulmonary veins to left
to right atrium atrium
Atrioventricular Right atrium to right Left atrium to left
ventricle via tricuspid valve ventricle via mitral valve
Ventricular-​arterial Right ventricle to pulmonary Left ventricle to aorta
artery

Right
pulmonary Aorta
artery
Pulmonary vein
Superior (left lower)
vena cava
Main Left atrium
pulmonary
artery
Mitral valve
Right atrium
Tricuspid
valve Left ventricle

Right ventricle
Inferior
vena cava
Fig. 4.1  Normal cardiac connections.
 

Anatomy (for echocardiography) 31

• In the normal fetus, morphologically left-​sided structures lie not only to

the left but also posterior to the equivalent right-​sided structure.
• Thus the most posterior chamber of the heart is the left atrium, situated
anterior to the spine and descending aorta.
Echocardiographic features of the cardiac chambers
Right atrium
• The venous component—​a smooth-​walled area into which the superior
and inferior vena cavae drain, along with the coronary sinus.
• The vestibule—​another smooth-​walled area extending to and
supporting the tricuspid valve.
• The atrial septum—​comprising the floor of the oval fossa and the
atrioventricular septum.
• The appendage—​broad and triangular in shape, extending forward to
wrap around the right wall of the aorta.
• The Eustachian valve—​directing blood entering the right atrium from the
inferior vena cava towards the foramen ovale.
• The coronary sinus—​opening into the right atrium just above the
interventricular groove.
Right ventricle
(See Table 4.2.)
• The inlet valve is the tricuspid valve which has:
• a septal leaflet closer to the apex of the heart than the mitral valve.

This produces offsetting, an important and rapid way to identify by

ultrasound the tricuspid valve and right ventricle
• tendinous cords attaching the septal leaflet to the ventricular septum.

• There is no direct continuity between the inlet valve and the arterial
outlet valve.
• Has the moderator band within its cavity towards the apex.
• Shows coarser trabeculations on the septal surface than are seen in the
left ventricle.
• Is anterior to the left ventricle.
Left atrium
• Is the most posterior heart chamber.
• The appendage—​a tubular finger-​shaped structure with a narrow
opening to the left atrium.
Left ventricle
(See Table 4.2.)
• The inlet valve is a mitral valve, features of which are:
• offsetting, being further from the apex than the tricuspid valve
• having no tendinous attachments to the ventricular septum but only

to the posterior wall via papillary muscles.

• The mitral and arterial outlet valves are in continuity through fibrous
tissue.
• The ventricular septal surface has fine trabeculations.
32

32 Chapter 4   The normal heart

Table 4.2  Morphological differences between right and left ventricles

distinguishable on ultrasound inspection
Right ventricle Left ventricle
Right and anterior Left and posterior
Septal attachments of tricuspid valve No septal attachments of mitral valve
Tricuspid valve inserted closer to apex Mitral valve inserted further from apex
of heart
Moderator band No moderator band
Rough trabeculations Smoother trabeculations
Tricuspid and pulmonary valves Mitral and aortic valves in continuity
separated by muscle

Echocardiographic features of the atrial

and atrioventricular septa
• The atrial septum is characterized in its mid portion by the foramen
ovale which:
• provides a passage for blood from the inferior vena cava to cross to

the left atrium
• is shaped so that in normal circumstances it will flap shut after birth

when left atrial pressures rise.

• The atrioventricular septum is identified by offsetting of the
atrioventricular valves thereby:
• producing an area where the left ventricle is adjacent to the

right atrium
• providing the most straightforward way to identify mitral and tri-

cuspid valves (see Fig. 4.2).

Echocardiographic features of the ventricular septum
• The ventricular septum is mainly muscular with a small area of fibrous
tissue (the perimembranous septum) in the area between the tricuspid
and aortic valves.
• There are many different ways of classifying the muscular septum
including:
• inlet septum—​the area between the two inlet valves and posterior to

the perimembranous septum
• apical trabecular septum—​extending to the apex of the ventricles
• outlet septum—​area separating the outlet tracts of each ventricle.

Echocardiographic features of the great arteries

The key to the identification of the great arteries is their pattern of
branching:
Pulmonary artery
In the fetus, the pulmonary artery divides into:
• The right pulmonary artery—​a longer section is imaged than of the left,
it passes under the aortic arch.
 

Anatomy (for echocardiography) 33

RA LA
Foramen ovale

Atrioventricular
septum

Mitral valve
Tricuspid
valve
RV LV

Fig. 4.2  Atrial and atrioventricular septa.

• The left pulmonary artery—​a shorter section is imaged and it passes in

front of the distal aortic arch.
• The arterial duct:
• This arises from the main pulmonary artery at the point of branching.
• It is larger than the branch pulmonary arteries.
• It connects the pulmonary artery directly to the descending aorta

distal to the origin of the left subclavian artery (for aberrant origin of
aortic arch vessels, especially of the right subclavian artery,
see E Chapter 6).
Aorta
The aorta comprises the ascending aorta, the arch (curving to the left of the
trachea), and the descending aorta. See E pp. 101–2 for right aortic arch.
• Its origin (and valve) lie behind, to the right and at right angles to the
pulmonary valve in a normally connected heart.
• The ascending aorta gives rise to the left and right coronary arteries just
above the aortic valve.
• The transverse arch gives rise to three main branches:
• The right brachiocephalic artery giving rise to the right subclavian and

right common carotid arteries.

• The left common carotid.
• The left subclavian artery.

• Aortic branches are significantly further from the aortic valve than the
pulmonary artery trifurcation is from the pulmonary valve.
• The aortic isthmus extends from the left subclavian artery to where the
ductus arteriosus inserts into the descending aorta. It is the narrowest
part of the aortic arch.
• The descending aorta is to the left of the spine and posterior to the
inferior vena cava at the level of the diaphragm.
34

34 Chapter 4   The normal heart

The fetal circulation

Introduction
• The concentration of haemoglobin is greater in the fetus than in the
postnatal circulation (by 50%).
• In addition, fetal haemoglobin has a greater affinity for oxygen compared
to adult haemoglobin.
• These differences permit fetal well-​being with left ventricular and
ascending aortic blood oxygen saturation in the region of 60%.
• In the fetus, oxygenation of blood takes place in the placenta.
• The fetal circulation preferentially supplies vital organs with highly
oxygenated blood returning from the placenta while allowing only a
small amount of blood to reach the lungs.
The circulation
The haemodynamic objectives in the fetus are achieved by three pathways
(see Fig. 4.3 and Table 4.3) which close after birth.
The venous duct
• Half of the well-​oxygenated umbilical venous blood avoids the liver and
enters the inferior vena cava via the venous duct.
• This blood streams preferentially through the foramen ovale to the left
atrium as a result of:
• direction and speed of blood flow in the venous duct
• angle of flow into the right atrium created by the Eustachian valve.

The foramen ovale
• In the normal heart, the foramen ovale is usually kept open by the
mechanisms previously described and by the lower pressure found in
the left atrium compared to the right atrium.
• In disease states, patency may be reduced with important consequences.
The arterial duct
• High vascular resistance in unaerated lungs directs up to 80% of blood
in the main pulmonary artery into the arterial duct and then into the
descending aorta and lower body.
• The remaining 20% passes via the pulmonary artery branches to the
lungs and then returns to the left atrium via four pulmonary veins.
• Coronary arteries and head and neck vessels arise from the aorta
before ductal blood enters and thus are supplied with the most oxygen-​
rich arterial blood.
• The descending aorta is post ductal and therefore the least well-​
oxygenated arterial blood serves the lower body and returns blood to
the placenta via two umbilical arteries.
• At around 28–​32 weeks, flow to the lungs increases while that in the
ductus venosus and through the foramen ovale is reduced in preparation
for postnatal changes.
 

The fetal circulation 35

Ductus arteriosus

Foramen ovale

Hepatic veins

Ductus venosus

Inferior
vena cava

Portal vein

Umbilical vein

Fig. 4.3  Normal fetal circulation showing fetal pathways as discussed in the text.
(Note: the anatomical relationship shown between the ductus venosus, portal vein,
and hepatic vein is only approximate.)

Table 4.3  Summary of fetal pathways

Fetal pathway Anatomical position Haemodynamic objective
Ductus venosus Umbilical vein to inferior vena cava To bypass liver
Foramen ovale Right atrium to left atrium To fill left heart
Ductus arteriosus Main pulmonary artery to aorta To bypass lungs
36

36 Chapter 4   The normal heart

Physiological variations
The normal fetal circulation has previously been described. The presence
of two parallel circulations (pulmonary and systemic) with pathways for
shunting between them allows changes in organ blood flow during gestation
in response to various stimuli, both normal and pathological. Where neces-
sary, these aspects are discussed in the text.
The ability of the fetal heart to function effectively as a pump depends
on intrinsic factors (myocardial performance) and extrinsic ones such
as preload and afterload. These factors are considered in more detail
in the sections on assessing function (E Chapter  18) and on hydrops
(E Chapter 22).
Changes at birth
• At birth, the function of gas exchange is taken over by the lungs.
• Conversion from fetal (umbilical-​placental) circulation to postnatal
(pulmonary) circulation involves important changes including closure of
the fetal shunts that are no longer required (Fig. 4.4).
• When the lungs aerate, there is a 10-​fold reduction in pulmonary
vascular resistance, thus:
• pulmonary blood flow increases, causing left atrial pressure to rise
• right-​to-​left shunting through the foramen ovale ceases or transiently

reverses (right atrial pressure falls as the venous duct closes)

• systemic arterial oxygen saturation rises
• closure of the ductus arteriosus commences, taking up to 4 days to

close and sometimes longer, especially in significantly preterm infants

with respiratory disease.
 

The fetal circulation 37

Closed ductus
arteriosus
Intact atrial
septum

Closed ductus
venosus

Disconnected
placental
circulation

Fig. 4.4 Postnatal circulation after closure of fetal pathways.

38
 

Chapter 5 39

Indications for fetal
echocardiography

Introduction  40
Indications for a detailed cardiac scan  42
40

40 Chapter 5   Indications for fetal echocardiography

Introduction
• The incidence of structural CHD is 8:1000 live births:
• For counselling purposes, the figure of approximately 1% is used.

• The incidence is higher in the prenatal population, with cardiac

diagnoses biased towards:
• more complicated lesions
• those also having rhythm disturbances
• those with associated non-​cardiac anomalies including structural and

chromosomal abnormalities.
• The general anomaly scan screens for CHD in a low-​risk population.
• ‘Suspected abnormal’ as an indication for detailed echocardiography
produces the highest yield for abnormalities.
 

Introduction 41
42

42 Chapter 5   Indications for fetal echocardiography

Indications for a detailed cardiac scan

Factors known to increase the risk for heart disease are indications to offer
a detailed cardiac scan and are summarized in Table 5.1.

Table 5.1  Indications for a fetal cardiac scan

Indication Risk to fetus for CHD
Structural abnormality suspected at the High
anomaly scan
Previous child (or fetus) with CHD 2–​3%
10% if 2 previously affected
Parent with CHD:
  maternal 6% (higher for left-​sided lesions)
  paternal 2–​3%
Maternal diabetes:
  type 1 3–​5%
  type 2 Less well defined, depends on HbA1c
in 1st trimester
  gestational Probably not increased
Increased nuchal translucency 5–​10% (E Chapter 21)
Increases with increased measurement
Abnormal cardiac axis High
Other structural anomaly with cardiac Variable
associations (Table 5.2)
At risk of syndrome with cardiac Variable
associations (E Chapter 2)
Monochorionic twins 4–​11% (for at least 1 of set) for MCDA,
(mono-​and diamniotic) higher for MCMA
Exposure to teratogen: Variable
  some anticonvulsants
  alcohol
  lithium
  retinoic acid
Hydrops Variable
(and isolated pleural + pericardial
effusions)
Abnormal cardiac rhythm Variable
Fast/​slow/​persistently irregular
Maternal anti-​Ro/​anti-​La antibodies 2–​3% for complete heart block
Small risk of myocarditis
Use of maternal NSAIDs Variable, gestation dependent
(ductal constriction)
 

Indications for a detailed cardiac scan 43

Table 5.1  (Contd)
Indication Risk to fetus for CHD
Abnormal fetal karyotype Variable but high
(E Chapter 2)
Maternal phenylketonuria Up to 8–​10%
Depending on control
Parent with autosomal dominant cardiac Most not detectable in the fetus
condition
Some maternal infections Evidence of myocarditis or fetal
(including parvovirus) anaemia
Absence of the ductus venosus High association with cardiac
anomalies—​structural and functional
Hyperdynamic situations including: May develop heart failure
  arteriovenous anomalies
  vascular tumours

Note
• A 1st-​degree relative of the fetus is:
• A parent, or
• A sibling

• Relatives of the fetus more distant than 1st-​degree with CHD are not
considered to increase the risk to the fetus.
• Some cardiomyopathies have an unclear familial pattern and more
distant relatives may be relevant:
• Fetal diagnosis is uncommon and a normal study does not exclude

the diagnosis.
• In many cases fetal cardiac assessment is not indicated.
• Discussion with the parent’s cardiologist may help guide pre-​and

postnatal management.
• Using fetal echocardiography to avoid invasive testing is unreliable:
• Only 50% of fetuses with Down syndrome will have a detectable

cardiac lesion.
• The highest yield for structural CHD is in the apparently ‘low-​risk’
population where an abnormality is suspected:
• Thus the importance of screening.

Non-​cardiac structural anomalies associated with increased

risk of CHD
• Some non-​cardiac structural lesions are associated with increased risk
for CHD (see Table 5.2):
• Even if the karyotype is normal.
• Some will have syndromic associations.

• Microarray and other genetic advances now provide more information;

this is discussed in detail in E Chapters 2 and 8.
4

44 Chapter 5   Indications for fetal echocardiography

Table 5.2  Non-​cardiac anomalies and commonly associated cardiac

lesions
Congenital diaphragmatic hernia VSD
Tetralogy of Fallot
Exomphalos VSD
Tetralogy of Fallot
Duodenal atresia VSD
—​and other bowel atresias AVSD
Tracheo-​oesophageal fistula VSD
Tetralogy of Fallot
Cystic hygroma Left-​sided obstructive lesions
Some upper limb anomalies Variable
Hydrops Structure, function or rhythm
 

Chapter 6 45

Fetal echocardiography

Introduction  46
Clinical application of relevant physics  48
General principles of cardiac scanning  52
Screening examination of the heart  54
Detailed fetal echocardiography  60
Limitations  61
Advanced ultrasound imaging  62
46

46 Chapter 6   Fetal echocardiography

Introduction
• In spite of improvements in technology and education, around 50% of
CHD remains undetected in the fetus.
• Improved postnatal outcome following fetal detection has now been
demonstrated for many cardiac lesions, emphasizing the value of
prenatal diagnosis.
• A systematic approach to screening and detailed assessment is essential
so that every structure is examined regardless of fetal position or
mobility.
• Traditionally the 4-​chamber view has been the basis of the fetal cardiac
examination.
• The 3-​vessel trachea view (see E Chapter 7) is now also standard for
screening at the anomaly scan.
• A logical sequential approach for identifying normal cardiac connections,
as described in E Chapter 4, can be used.
• This chapter addresses the requirements for the screening examination
of the low-​risk population and also fetal echocardiography for those
considered to be at an increased risk as well as those in whom an
abnormality is suspected.
 

Introduction 47
48

48 Chapter 6   Fetal echocardiography

Clinical application of relevant physics

• The physics of ultrasound is covered in detail in many textbooks,
including the Oxford Specialist Handbook in Echocardiography.
• This brief overview serves to highlight principles with practical relevance
to obtaining optimal fetal cardiac images and Doppler information.
Greyscale 2D image
This is the basis for all examinations; image quality may be improved by
applying the following techniques:
• Choice of probe is important and varies according to the distance of the
fetus from the probe, as influenced by various factors.
• High-​frequency probes, e.g. 6–​8 MHz, provide higher resolution and
thus clearer images but have less penetration; they are therefore good
for early pregnancy and normal pregnancies but may be less helpful for
later gestations, obese mothers, or in the presence of polyhydramnios:
• In these situations, a 3–​4 MHz probe may be more useful.

• Better images are obtained if the angle of insonation is as near as

possible to a right angle to the structure under scrutiny, in contrast to
Doppler assessment (see below).
• Image resolution may be improved by:
• reducing the sector size of image zone
• adjusting the focal zone to the level of interrogation
• applying the zoom so that the heart image occupies at least half of

the screen
• use of harmonics.

• Cineloop facilities are helpful to review images slowly in all phases of

the cardiac cycle.
• Safety should be considered but most ultrasound machines have
mechanisms which prevent safe limits being exceeded.
Doppler
• The following Doppler modalities are available on most ultrasound machines:
• Pulsed wave (PW) Doppler
• Colour Doppler
• Continuous wave (CW) Doppler.

• The principle behind Doppler is that the frequency of ultrasound

changes when it is scattered by a moving target—​the Doppler shift.
• This change is related to the speed of movement of the target.
• If the frequency of the emitted beam is known and that of the beam
received is detected then the Doppler shift can be displayed as the
velocity of the moving target (either blood cells or heart structure).
Pulsed wave Doppler
• See Fig. 6.1.
• Allows for accurate measurement of speed and direction of blood flow.
• The angle of insonation should be small, as near to parallel to the
direction of blood flow as possible.
• The sample volume can be placed in a specific position so that the
velocity at that particular point in the heart can be measured accurately.
• Its main disadvantage is that it can only sample velocities up to a certain
speed and thus is not useful if velocities are high.
 

Clinical application of relevant physics 49

Colour Doppler
• See Fig. 6.2.
• Is another way of displaying PW information.

Fig. 6.1 PW signal from LV inlet taken from 4-​chamber view. Note Doppler cursor
in line with direction of blood flow (small angle of insonation), forward flow to LV
shows normal E (early) and A (late, atrial contraction) configuration and velocities.

Fig. 6.2  Colour flow Doppler interrogation of interventricular septum (IVS) in 4-​chamber

view making presence of 1 or more VSDs much clearer than image alone. In colour, signal
was blue indicating flow from right (RV) to left ventricle (LV). (See colour plate section).
50

50 Chapter 6   Fetal echocardiography

• Is useful for adding to information obtained from 2D imaging to

demonstrate:
• direction of blood flow
• speed of flow
• patency of valves
• regurgitation through valves
• abnormal flow, e.g. across the ventricular septum.

• Power Doppler signal reflects wave amplitude not velocity and is thus
less influenced by angle of insonation.
• When power Doppler is combined with high-​density colour Doppler,
the displayed signal incorporates direction of flow and is good for
demonstrating low-​velocity flow in small vessels.
Continuous wave Doppler
• See Fig. 6.3.
• CW Doppler can accurately measure and quantify high velocities.
• It continuously emits and receives information from all moving
targets and, unlike PW Doppler, cannot determine exactly where the
accelerated jet arises and so this needs to be established first, by using a
combination of 2D imaging, colour Doppler, and PW Doppler.
M-​mode
• See Fig. 6.4.
• Is useful in the assessment of fetal arrhythmias by giving a visual
demonstration of the relationship between atrial and ventricular contraction.
• It can also be used to measure ventricular and myocardial dimensions
and function.

Fig. 6.3 Outlet view of LV with colour flow Doppler highlighting high velocity in right
ventricular outflow tract (LVOT). CW confirms velocity of 3.44 m/​sec with good
angle of insonation indicating severe AS (peak instantaneous gradient from modified
Bernoulli equation 47 mmHg).
 

Clinical application of relevant physics 51

Fig. 6.4 Enlarged M-​mode examination obtained with cursor at right angles to right

ventricular anterior wall (RVAW), interventricular septum (IVS), and left ventricular
posterior wall (LVPW) as seen on the 2D inset image. Measurements of muscle
thickness and cavity size can be made on the M-​mode trace. Calculations of systolic
function can be performed if relevant.
52

52 Chapter 6   Fetal echocardiography

General principles of cardiac scanning

Certain points are important to every scan performed.
Communication
Before the scan, there should be an explanation to the parents about:
• why the scan is being performed
• the limitations of antenatal cardiac assessment.
It is helpful to be aware of parental expectations and understanding.
Image quality
Factors which influence image quality include:
• gestation
• fetal position
• maternal size
• poly/​oligohydramnios
• multiple pregnancy
• quality of equipment and familiarity of operator with equipment.
The normal fetal circulation
• The following anatomical features influence interpretation of the
fetal scan:
• foramen ovale
• ductus arteriosus
• ductus venosus

• All are part of the normal fetal circulation and programmed to close
postnatally:
• Their closure cannot be predicted antenatally.

• Some abnormalities, e.g. coarctation of the aorta, may only present

postnatally when the shunts close and therefore cannot be excluded
antenatally.
• Some lesions evolve during pregnancy and become more obvious in
later pregnancy.
 

General principles of cardiac scanning 53

54

54 Chapter 6   Fetal echocardiography

Screening examination of the heart

The UK Fetal Anomaly Screening Programme (FASP) applies to the exam-
ination of all aspects of the fetus and is regularly updated. From the car-
diac perspective, there has been much time committed to improving
screening with the aim of increasing the antenatal detection of CHD. The
International Society of Ultrasound in Obstetrics and Gynecology has also
published guidelines on this subject.
• It is essential that nothing is assumed in the examination of the
fetal heart.
• Everything must be proved, including left and right sides of the fetus.
• Every chamber and every vessel have their own identifying features.
• Following a protocol, demonstration of substantially normal cardiac
anatomy can usually be achieved.
The cardiac protocol in FASP guidelines published in June 2015 includes the
following views at 18–​22 weeks:
1.  Situs/​laterality
• Heart and stomach should be on the left side of the fetus.
• At the level of the diaphragm:
• The aorta should be on the left
• The IVC is anterior to it and to the right of the spine (Fig. 6.5)

Fig. 6.5  Cross-​sectional image at level of diaphragm allowing situs solitus to be

identified providing fetal orientation is as indicated.
 

Screening examination of the heart 55

2.  Four-​chamber view
This should be as a transverse section through the thorax to include a com-
plete rib (Fig. 6.6) and show the following:
• The heart is mostly in the left chest.
• The apex is to the left at an angle of 30–​60 degrees to the sagittal axis.
• The heart occupies ⅓ of the chest, subjective assessment is usually
sufficient but area (A) can be measured if there is doubt and should
be no more than ⅓ or circumference (C) no more than ½ of chest
measurement in ventricular diastole (E Fig. 18.2, p. 209).
• This measurement may include a physiological pericardial effusion, less
than 3 mm in maximum depth at any point and in any phase of the
cardiac cycle.
• 2 atria are equal in size.
• 2 ventricles are equal in size.
• 2 AV valves open freely with each cycle.
• The 2 AV valves should meet at the crux as an offset cross:
• The valve closest to the apex is the tricuspid valve.
• The valve furthest from the apex is the mitral valve.
• The valves define the ventricles, thus TV will identify the RV, MV

the LV.
• The RV morphology includes a moderator band (MB) near the apex.
• The ventricular septum is intact.
• The foramen ovale opens into the left atrium.
• The rhythm is regular at a rate of 120–​160 bpm.

Fig. 6.6 Normal 4-​chamber view.
56

56 Chapter 6   Fetal echocardiography

3.  Aorta/​left ventricular outflow tract

• See Fig. 6.7.
• The aorta can be identified as it gives rise to head and neck vessels.
• Sweeps out towards the right shoulder.
• And then turns through 90 degrees to pass to the left side of the
trachea.
• The anterior wall of the aorta is continuous with the ventricular septum.
4.  Pulmonary/​right ventricular outflow tract
• See Figs 6.8a and 6.8b.
• The pulmonary artery (PA) is identified by its division into 3 branches:
• left pulmonary artery (LPA)
• right pulmonary artery (RPA)
• ductus arteriosus (DA).

• It passes straight backwards towards the spine.

• The PA should be slightly bigger than the aorta.
• The main PA continues as the ductus arteriosus to join the aorta.
• The great arteries should cross over each other.
5.  Three-​vessel trachea (3VT) view
• A transverse view of the upper mediastinum to demonstrate the main
PA continuing as the ductus to join the transverse aortic arch on the left
side of the trachea, SVC to the right (see E Chapter 7).
At present the use of colour Doppler is not part of the screening examin-
ation but saving images, preferably moving images, is now standard practice.

Fig. 6.7  Long-​axis view of LVOT in systole showing continuity between IVS through
the aortic valve (AoV) to ascending aorta.
 

Screening examination of the heart 57

(a)

(b)

Fig. 6.8  (a) Oblique cut through right ventricular outflow tract (RVOT) showing
PV, PA, LPA, DA, and aortic isthmus (Isth). (b) Cephalad angulation from 4-​chamber
view showing PA with confluent RPA and LPA.
58

58 Chapter 6   Fetal echocardiography

Helpful observations
• The most posterior chamber of the heart is the left atrium.
• The descending aorta lies between spine and left atrium.
• The right ventricle is bigger than left, especially in 3rd trimester.
• IVC and SVC should be seen draining into the RA.
• A normal 4-​chamber view will exclude most uncorrectable cardiac
lesions and up to ⅓ of significant cardiac anomalies (Box 6.1).
• Outlet views increase the range of abnormalities detected (Box 6.2).
• By the end of the examination, ‘normal cardiac connections’ should
have been defined see E Chapter 4.
Alternative approach to screening assessment
• 5 transverse views are obtained having established laterality.
• 5 views are obtained as follows:
• V1: transverse view of the fetal abdomen to demonstrate situs.
• V2: 4-​chamber view of heart.
• V3: 5-​chamber view demonstrating aortic root arising from left ven-

tricle (extended 4-​chamber view).

• V4: to demonstrate bifurcation of pulmonary artery.
• V5: 3VT view with trachea at level of main PA joining the ductus

arteriosus.

Box 6.1  Cardiac lesions resulting in an abnormal

4-​chamber view
• Ebstein’s anomaly/​dysplastic tricuspid valve
• Tricuspid/​mitral atresia
• AVSD—​complete and partial
• Hypoplastic left heart syndrome
• Pulmonary atresia with intact septum
• Double inlet left ventricle
• Congenitally corrected transposition
• Large ventricular septal defect (inlet/​muscular)
• Cardiac tumours
• Laterality defects
• Severe aortic/​pulmonary stenosis or atresia.

Box 6.2  Cardiac lesions detected using great artery views

• Tetralogy of Fallot
• Pulmonary atresia with VSD
• DORV
• Transposition of great arteries
• Common arterial trunk
• Some cases of coarctation
• Pulmonary/​aortic stenosis.
 

Screening examination of the heart 59

60

60 Chapter 6   Fetal echocardiography

Detailed fetal echocardiography

• The aim of fetal echocardiography is to provide a complete assessment
of anatomy and function in pregnancies at increased risk of or thought
to have a cardiac abnormality on screening.
• This examination involves of all of the earlier described techniques in
this chapter.
• In addition, fetal echocardiography involves the use of all Doppler
modalities in order to further assess:
• situs and cardiac axis
• all 4 cardiac chambers, septa, and both great vessels
• systemic and pulmonary venous return
• cardiac rhythm and function.

Functional assessment
A detailed scan should include colour Doppler assessment of valves, the
DA, and the ventricular septum. Any abnormal velocity, direction of flow,
or turbulence warrants detailed PW Doppler evaluation. Rhythm, muscle
function, and detailed measurements may be indicated.
Normal values
Detailed dimensions are sometimes important; these are related to gesta-
tion and can be quantified using Z-​scores.
 

Limitations 61

Limitations
• Not all cardiac anomalies are detectable antenatally; this needs to be
shared with the parents.
• Fetal shunts are normal.
• Some valvar anomalies may not be present early in pregnancy and
evolve such that they may only become apparent in late pregnancy or
postnatally:
• Mild AS
• Mild PS
• Even tetralogy of Fallot.

• Some lesions can only be diagnosed with confidence or excluded

postnatally when the shunts close.
62

62 Chapter 6   Fetal echocardiography

Advanced ultrasound imaging

• Spatiotemporal image correlation (STIC) which uses automated
transverse and longitudinal sweeps of the anterior chest wall is the
current method used to acquire 3D/​4D images of the fetal heart.
• The 3D automated volume acquisition consists of multiple 2D slices
which are combined to create one complete moving 3D cardiac cycle,
which is called a 4D volume data set, in which the 4th dimension is time.
• Each of these virtual planes can be moved, rotated, and analysed.
• STIC has been used in conjunction with inversion mode and B-​flow imaging.
• Inversion mode in which the 3D pixels (voxels) of the greyscale images are
inverted has been used in an attempt to make structures more discernible.
• B-​flow imaging is used to improve the weak signals reflected from the
blood and suppresses strong signals from surrounding structures:
• This has been used to improve the identification of small-​calibre,

low-​velocity vessels such as pulmonary veins.

• Drop-​out artefact and reverberations occur frequently. The image will
be affected by the same elements which create suboptimal 2D imaging,
such as oligohydramnios and maternal obesity.
• The image may also be affected by fetal breathing or fetal movement
during acquisition.
Applications
Diagnostic
Suggested benefits of 3D imaging include the following:
• Identification of papillary muscle and attachments.
• Delineation of VSDs.
• Identification of semi-​lunar valve morphology:
• Including when fetal intervention is being considered.

• Identification of the atrial appendages in suspected atrial isomerism.

• Assessment of cardiac function:
• Reference values for ventricular volumes and ejection fraction

have been developed using virtual organ computer-​aided analysis

(VOCAL) and have been used in the management of fetuses with
growth restriction and twin-​to-​twin transfusion.
Whether or not advanced imaging improves antenatal diagnosis is still unclear:
• It is time-​consuming.
• There are not enough studies to support or refute the benefit of this
imaging modality.
• It has been suggested that 3D/​4D imaging may benefit telemedicine and
off-​line analysis.
• A STIC image may be acquired by an examiner at a remote site and
be reviewed offline, this may be useful in areas with limited access to
detailed fetal echocardiography.
Training and support
Training of sonographers in fetal cardiac examination using STIC may allow
them to improve their understanding of the fetal heart, specifically the spa-
tial relationship of heart structures.
 

Chapter 7 63

Three-​vessel trachea view

Introduction  64
The normal three-​vessel trachea view  66
Abnormalities of the 3VT view  68
64

64 Chapter 7   Three-vessel trachea view

Introduction
The three vessel trachea (3VT) view has recently been introduced as one of
the views required as part of the screening examination of the heart at the
routine anomaly scan (E Chapter 6).
The aim of this view is to increase detection of duct-​dependent cardiac
lesions, thereby optimizing neonatal management of babies born with CHD.
 

Introduction 65
6

66 Chapter 7   Three-vessel trachea view

The normal three-​vessel trachea view

• This view can be achieved even in the 1st trimester.
• It is achieved by obtaining a 4-​chamber view and then scanning
anteriorly to show the LVOT followed by RVOT and continuing this
sweep to obtain the 3VT section.
• It is thus a transverse view of the upper mediastinum a few millimetres
cephalad to the formerly used 3-​vessel screening view showing:
• transverse main PA
• transverse aortic arch and isthmus
• cross-​section of the trachea (a white circular structure with a

black lumen)
• cross section of the SVC
• the connection of the DA to the aortic arch.

• The initial assessment should use 2D imaging.

• This can be followed by the use of colour Doppler to add important
information about direction of flow.
• A normal 3VT view shows:
• PA diameter slightly bigger than the aorta
• aorta diameter slightly bigger than SVC
• PA and DA pass to the left of the trachea
• aorta also passes to the left of the trachea to meet the DA as a ‘V’
• colour Doppler shows flow is anteroposterior in the Ao, PA, and DA
• no arterial vessel is seen to the right of the trachea
• there should be a space between the anterior border of the vessels

and the back of the sternum, occupied by the thymus.

• The thymus is:
• slightly less echogenic than the lungs
• bordered either side by the mammary arteries.

• Various methods are used to assess the size of the thymus including
• thymic:thoracic ratio (T:T ratio)
• area
• circumference.

• The T:T ratio is obtained by dividing the distance from the anterior of
the transverse aorta to the posterior of the sternum (i.e. the diameter
of thymus) by the intrathoracic diameter (see Fig. 7.1).
• T:T ratio can be related to gestational age although some consider it to
be constant throughout pregnancy with a value of 0.44.
• T:T measurement of <0.3, indicative of a small thymus, is particularly
associated with 22q11 deletion, especially in the presence of a
conotruncal anomaly.
• A small thymus may also be seen with
• Trisomy 18 and 21
• intrauterine growth restriction
• chorioamnionitis.
 

The normal three-vessel trachea view 67

(a)
ANT

Thymus

LEFT RIGHT
PA
Ishmus SVC
Trachea

Sp

POST

(b)
Post sternum/ANT
thymus

Ao

Sp

Fig. 7.1  (a) Diagram of 3VT view. (b) Diagram of 3VT view showing measurements
for TT ratio. In practice, the front of thymus and back of sternum are usually hard to
distinguish.
68

68 Chapter 7   Three-vessel trachea view

Abnormalities of the 3VT view

The 3VT view can be abnormal because of an
abnormality in:
• Vessel number
• Vessel size
• Vessel relationship to trachea
• Direction of flow.
These arrangements are summarized in E Table 15.4, p. 170.
Lesions likely to produce an abnormal 3VT view
Left-​sided lesions
• HLHS
• Severe AS
• Aortic atresia
• Coarctation of the aorta
• Interrupted aortic arch.
Right-​sided lesions
• Pulmonary atresia
• PS
• Tetralogy of Fallot
• Ebstein’s
• Dysplastic TV
• Tricuspid atresia.
Mixed
• TGA
• Common arterial trunk.
 

Chapter 8 69

Other investigations

Introduction  70
Invasive testing  71
Genetic testing of invasive samples  72
Non-​invasive genetic testing  74
Fetal electrocardiography  75
Fetal magnetic resonance imaging  76
70

70 Chapter 8   Other investigations

Introduction
It is important to determine whether a cardiac lesion is:
• isolated, or
• associated with non-​cardiac abnormalities, or
• part of a syndrome (E Chapter 2).
This information is important:
• to allow accurate counselling about fetal prognosis for both cardiac and
non-​cardiac diagnoses
• for management of pregnancy and delivery
• in determining recurrence risk and management of subsequent
pregnancies
• in case assessment of parents and other family members should be
offered
• some genetic information can only be obtained by invasive testing
• the method of obtaining material for genetic testing and the method of
analysis depends on gestation, the level of risk (of both the procedure
and of an abnormal result) as well as on patient choice.
 

Invasive testing 71

Invasive testing
All invasive tests are associated with a small increased chance of miscarriage
and include the following:
• Amniocentesis
• Chorionic villus sampling (CVS)
• Fetal blood sampling.
These tests provide samples for testing:
• Chromosome number and structure
• Single gene disorders
• Biochemistry (e.g. for metabolic disease such as Smith–​Lemli–​Opitz
syndrome, associated with AVSD).
Amniocentesis
• Can be performed from about 15 weeks’ gestation and at any stage
later in pregnancy.
• Involves taking 10–​20 mL of amniotic fluid transabdominally under
ultrasound guidance.
• Fetal cells in the amniotic fluid are grown in culture and prepared for
chromosome analysis.
• Molecular genetic testing can also be performed to test for the
chromosomes (microarray, FISH, quantitative fluorescence polymerase
chain reaction).
• DNA can be extracted from the cultured sample to test for single gene
disorders.
• The miscarriage risk associated with the procedure is about 0.5%.
Chorionic villus sampling
• Can be performed from 11 weeks’ gestation.
• A small sample of placenta from the villous area of the chorion is
obtained by transabdominal or transcervical access under ultrasound
guidance.
• Karyotyping, direct molecular testing, or DNA extraction can be
performed following culture of the sample.
• The available tests are the same as for amniocentesis.
• There is a small possibility of confined placental mosaicism giving false
results.
• The miscarriage risk associated with the procedure is about 0.5–​1%.
Fetal blood sampling
• The sample is usually obtained from the umbilical cord at the point of
placental insertion.
• This higher-​risk procedure is almost exclusively performed if blood is
needed for other investigations such as fetal anaemia or during fetocide
to store DNA for future analysis.
72

72 Chapter 8   Other investigations

Genetic testing of invasive samples

These samples can be used for testing for chromosomal or single gene
disorders.
Chromosome tests
Microarray testing
• Comparative genome hybridization is generally used.
• This allows specific probes to attach to the chromosomes to detect
whether there are regions deleted or duplicated.
• Resolution depends on the number of probes, e.g. 60,000 probes give
about a 60 kb resolution.
• Takes about 14 days.
• Can be performed more quickly on DNA extracted directly from a CVS
sample.
• The advantage is that it is twice as good as conventional karyotyping in
detecting chromosomal disorders.
• The disadvantage is that incidental findings and variants of unknown
significance can be identified which may complicate the explanation to
the parents.
Karyotype
• Takes about 10–​14 days to obtain results as cells have to be cultured to
obtain metaphase, the appropriate stage in cell division to examine the
chromosomes under the microscope.
• The resolution is 5–​10 Mb.
• Although microarray is now the method of choice, karyotyping is used
to identify translocations and chromosomal rearrangements and may
help to clarify the microarray results.
Fluorescence in situ hybridization (FISH)
• A small number of specific probes enable deletions or duplications to be
identified.
• Only a small number of probes are usually used in one test.
• The technique has now largely been replaced by microarrays.
• May be useful if a specific rapid answer is required.
• Also used when performing follow-​up parental chromosome testing
when a chromosome variant is identified in the fetus.
Quantitative fluorescence polymerase chain reaction (QF-​PCR)
• Is a more rapid test and can be performed in 1–​2 days.
• Involves using a DNA marker to map a specific area of chromosome
using probes.
• Generally used to detect aneuploidies, including of the sex
chromosomes and triploidy.
• Can be used to detect specific single gene mutations, e.g. for Noonan
syndrome but is rarely used in practice.
• This test is currently offered to women with a higher-​risk result
(>1:150) following Down syndrome screening.
• Soon to be replaced by maternal cell-​free fetal DNA testing

(cffDNA, E p. 74)

 

Genetic testing of invasive samples 73

Molecular genetic testing

• These tests can be performed for single gene disorders and use the
DNA extracted from cultured amniocentesis or CVS samples.
• Testing can also be performed directly on DNA extracted from CVS
samples.
Conventional Sanger sequencing
• This test sequences the DNA code of each gene.
• It can be used to test for particular familial mutations in pregnancy.
• It can also be used to investigate the cause of malformations in a fetus,
but this may be impractical during pregnancy as it can take weeks to
complete.
• Is also used to test parental blood samples to determine
recurrence risks.
Gene panel tests
• Next-​generation sequencing techniques allow more than one gene to be
tested at once.
• These gene panels are becoming more available.
• May be used in future to investigate anomalies where the cause is
known to be heterogeneous such as:
• Noonan syndrome
• cardiomyopathy
• heterotaxy

• Can also be performed following a pregnancy to help determine the

diagnosis and recurrence risks.
Whole exome and whole genome sequencing
• Next-​generation sequencing techniques allow the genes to be
sequenced at once (whole exome sequencing) or the entire genome to
be sequenced in one test (whole genome sequencing).
• This allows diagnoses to be made which have not first been clinically
suspected.
• Is likely to become more available in future to identify the cause of many
fetal anomalies.
• Results may make counselling more complex.
74

74 Chapter 8   Other investigations

Non-​invasive genetic testing

• Involves testing the small amount of fetal DNA present in the maternal
circulation.
• This cell-​free fetal DNA (cffDNA) originates from the placenta.
• The amount of fetal DNA increases with increases in gestation.
• Testing can be performed from about 9–​10 weeks’ gestation.
• The advantage of cffDNA testing is that the miscarriage risk associated
with invasive testing is avoided.
• It allows examination for certain aneuploidies, currently trisomy 21,
trisomy 13, and trisomy 18.
• These are considered to be screening tests.
• There is a low false-​positive rate (due to confined placental mosaicism)
and false-​negative rate.
• Invasive testing is offered to confirm a positive result.
• Other chromosomal deletions and duplications (e.g. 22q11 deletion and
XO) can be tested by this method but are less accurate and currently
not widely used.
• Single gene disorders can be tested for using this method, e.g. Noonan
syndrome. This may be offered in some circumstances as a bespoke test
where a specific mutation is known in a family.
• Other single gene disorder tests are available as an cffDNA panel test
and these will become more widely available:
• No confirmatory invasive test is required as the accuracy is high.

• Determination of the fetal sex may be performed when an X-​linked

condition is present in a family, e.g. Simpson–​Golabi–​Behmel syndrome
(septal defects, pulmonary stenosis, coarctation, TGA):
• No confirmatory invasive test is offered as the accuracy is high, al-

though not 100%.
 

Fetal electrocardiography 75

Fetal electrocardiography
• Theoretically valuable in determining rhythm and myocardial health.
• Only available in a small number of centres at present.
• Requires expensive technology.
• Not used in routine clinical practice.
76

76 Chapter 8   Other investigations

Fetal magnetic resonance imaging

Introduction
Fetal MRI:
• is safe beyond the 1st trimester when performed within internationally
accepted energy limits
• is now an established imaging adjunct for many static organs, particularly
the fetal brain
• of the heart has long been limited by:
• structure size
• fast heart rate
• lack of external cardiac gating
• uncontrolled fetal movement
• cardiovascular fetal MRI is now rapidly developing.

Standard MRI sequences

Certain standard MRI sequences may currently be of value in cases where
ultrasound is limited or important aspects of diagnosis cannot be resolved
by echocardiography alone.
Single-​shot fast spin echo (SSFSE) sequences
T2-​weighted sequences offer ‘black blood’-​like contrast which may offer
useful imaging of the extracardiac vasculature. These sequences have a short
acquisition time and are generally more robust to minor fetal movements.
Balanced steady-​state free precession (bSSFP) sequences
These ‘bright blood’ sequences produce good contrast between the blood
pool and surrounding tissue. They can be useful for assessing intracardiac
structures as well as the extracardiac vasculature; however, they are more
susceptible to motion artefacts. When combined with SSFSE sequences,
tissue characterization (e.g. of intracardiac tumours) may also be possible.
Novel techniques
While not routinely available in a clinical setting, novel MRI techniques may
offer a more comprehensive means of assessing the fetal cardiovascular
system.
Phase contrast imaging
Retrospective cine gating techniques can allow for estimation of flow rates
in the major fetal vessels. These are currently limited to a research setting.
Similar techniques have allowed for estimation of intravascular oxygen con-
tent in late gestation fetuses.
Spatiotemporal motion correction
Motion-​corrected 2D–​3D registration techniques offer the potential to
provide highly detailed 3D information for static structures, such as the
major vessels.
Summary
A clear clinical role of fetal cardiovascular MRI is yet to be established.
Newer MRI techniques offer the possibility of generating comprehensive
fetal cardiovascular anatomy, function, and haemodynamic information,
comparable to cardiac MRI studies in postnatal life.
 

Chapter 9 77

Structural abnormalities

Introduction  78
Classification of structural congenital heart disease  80
Detailed consideration of anomalies  82
78

78 Chapter 9   Structural abnormalities

Introduction
This chapter gives an overview of the classification of structural cardiac
anomalies used in the detailed description and discussion in the following
chapters. These fundamental points apply throughout:
• It is essential to begin by establishing the left and right sides of the fetus
before going on to define the morphological features of each chamber
and vessel and to demonstrate the cardiac connections (E Chapters 4
and 6).
• Structural cardiac anomalies will be classified according to the segmental
approach to cardiac anatomy (see E Chapter 4).
• There may be more than one cardiac abnormality present, thus the
initial scan should be full and detailed.
• There are limitations to the detail that can be obtained prenatally even
in technically excellent scans because:
• fetal size in early gestation may limit resolution
• some lesions evolve in utero
• postnatal changes alter haemodynamics.

• Having found a cardiac anomaly, a detailed search for non-​cardiac

conditions is indicated in order to allow as accurate counselling and
management planning as possible.
• Some structural anomalies can be or have been considered variations
of normal; the distinction between normal and abnormal is not always
clear cut and may depend as much on the context or other features
(associations, cardiac or otherwise) as on the anatomy alone. Examples
of such include:
• TR in early gestation
• complete situs inversus with dextrocardia
• right aortic arch (E pp. 101–2)
• aberrant origin of a subclavian artery (E pp. 102–4)
• bilateral or single left-​sided SVC (E p. 87).

• These anatomical findings are discussed at various points as relevant.

 

Introduction 79
80

80 Chapter 9   Structural abnormalities

Classification of structural congenital

heart disease
Left-​sided structural cardiac anomalies
See E Chapter 10.
Venoatrial
• Partial anomalous pulmonary venous drainage
• Total anomalous pulmonary venous drainage
• Left-​sided SVC.
Atrioventricular
• Mitral atresia (absent left AV connection)
• Mitral hypoplasia.
Ventricular-​arterial
• Aortic stenosis
• Aortic atresia
• Hypoplastic left heart syndrome.
Arterial
• Coarctation of the aorta
• Interrupted aortic arch
• Right aortic arch
• Aberrant subclavian artery.
Right-​sided structural cardiac anomalies
See E Chapter 11.
Venoatrial
• Inferior and superior venae cavae
• Azygous/​hemiazygous connections.
Atrioventricular
• Tricuspid atresia (absent right AV connection)
• Ebstein’s anomaly/​tricuspid valve dysplasia.
Ventricular-​arterial 
• Pulmonary stenosis
• Pulmonary atresia with intact septum
• Tetralogy of Fallot
• Tetralogy with absent pulmonary valve
• Pulmonary atresia with VSD
• DORV.
Septal abnormalities
See E Chapter 12.
Atrial septal defect
• Secundum
• Sinus venosus type
• (Primum ASD—​see E Partial AVSD).
 

Classification of structural congenital heart disease 81

Ventricular septal defect
• Perimembranous
• Inlet
• Outlet
• Muscular (with more detailed description of location if possible).
Atrioventricular septal defect
• Partial
• Complete
• Intermediate type.
Abnormal ventriculoarterial connections
See E Chapter 13.
• Transposition of the great arteries
• Congenitally corrected transposition of the great arteries
• Common arterial trunk.
Miscellaneous lesions
See E Chapter 14.
• Double inlet left ventricle
• Isomeric anomalies.
82

82 Chapter 9   Structural abnormalities

Detailed consideration of anomalies

• The following chapters in this handbook explain these lesions and
describe the:
• incidence (mainly based on postnatal figures)
• anatomy
• associated cardiac anomalies
• haemodynamics when appropriate
• ultrasound features and evolution in utero
• non-​cardiac associations.

• An account of the postnatal options and course of the cardiac lesions

is given particularly when fetal findings or management may be relevant
to these.
 

Chapter 10 83

Left-​sided abnormalities

Venoatrial junction 84
Atrioventricular junction 90
Ventriculoarterial junction 92
Arterial abnormalities 98
84

84 Chapter 10   Left-sided abnormalities

Venoatrial junction
Partial anomalous pulmonary venous drainage (pAPVD)
Incidence
• <1% of CHD.
Anatomy
• 1 or more of the 4 pulmonary veins, more frequently right sided, drain
somewhere other than the left atrium:
• most commonly into the right atrium
• but otherwise IVC, SVC, left innominate vein, or coronary sinus.

• There may be abnormal pulmonary arterial supply (as in Scimitar

syndrome).
Associated cardiac anomalies
• ASD most common.
• Any other can occur.
• May be isolated.
Prenatal significance
• Since pulmonary blood flow is small in the fetus:
• it is difficult to diagnose
• there is no haemodynamic significance in the absence of severe sten-

osis of the vein(s).

Ultrasound (U/​S) features
• Very hard to diagnose on imaging unless other abnormalities raise
suspicion as in:
• left atrial isomerism suspected (E Chapter 14)
• abnormal heart position (usually rightward displacement)
• abnormal pulmonary arterial imaging with one (usually the right)

being much smaller

• abnormal source of pulmonary blood flow identified from

descending aorta
• superior sinus venosus ASD
• Doppler indicates an obstructed pulmonary venous waveform.

Non-​cardiac associations
• Pulmonary hypoplasia.
Postnatal implications
• Altered haemodynamics are determined by:
• the number of pulmonary veins involved
• the presence or absence of stenosis of the vein(s).

• Surgery to correct may be indicated but is not always required or

practicable if the lesion is isolated and unobstructed.
Total anomalous pulmonary venous drainage (TAPVD)
Incidence
• Approximately 1% of CHD with male:female ratio of 4:1.
 

Venoatrial junction 85

Anatomy
There is no direct communication between the pulmonary veins and the left
atrium; categories are defined by drainage site:
• Supracardiac (50%): the pulmonary venous confluence drains
into the right SVC either directly or via a left vertical vein and left
innominate vein.
• Cardiac (20%): the pulmonary veins drain either directly into the right
atrium or through a confluence into the coronary sinus.
• Infracardiac/​infradiaphagmatic (20%): the pulmonary venous confluence
drains either to the portal vein, ductus venosus, hepatic vein, or IVC.
• Mixed (10%): a combination of these variations.
Associated cardiac anomalies
• A feature of complex CHD as seen in atrial isomerism (E Chapter 14)
in which both pulmonary venous configuration and any associated
obstruction have an important impact on management strategies
• Hypoplastic left heart (E pp. 95–7)
U/​S features
• Difficult to detect prenatally in isolation but may be suspected in the
context of isomerism
• May be possible to define a confluence behind the left atrium (Fig. 10.1)
• Left-​sided structures may be smaller than right and are occasionally
hypoplastic
• Doppler interrogation may reveal evidence of one or more sites of
obstruction (Fig. 10.2)

Fig. 10.1 Oblique 4-​chamber view showing confluence (*) behind atrial mass with

no entry of pulmonary veins to LA.
86

86 Chapter 10   Left-sided abnormalities

(a)

(b)

Fig. 10.2  (a) PW Doppler signal in pulmonary venous confluence (v) showing high
velocity poorly pulsatile signal indicative of obstruction. (b) Colour flow signal with
aliasing in a confluence behind LA. (See colour plate section).

Evolution and prognosis in utero

• Prognosis will be determined by obstruction/​hypoplasia of the veins
and by other cardiac anatomy.
• Stenosis may not be apparent until after birth and pulmonary blood flow
increases.
 

Venoatrial junction 87

Associated non-​cardiac anomalies

• Isomerism.
• Cat eye syndrome (complex anomaly of chromosome 22).
Postnatal prognosis and management
• Right-​to-​left shunting at atrial level is required for survival and the fossa
ovalis can be, or rapidly become, restrictive.
• The precise anatomy and severity of venous stenosis will define timing
for corrective surgery but will be early if veins are obstructed (especially
common in infradiaphragmatic form).
Left-​sided SVC
See also E Chapter 11.
• Bilateral SVCs may or may not be connected by a innominate/​
bridging vein.
• This is increasingly identified as 3VT views become part of the routine
screening fetal echocardiogram (E Chapter 7, p. 64).
• May be recognized in utero as it often causes a prominent coronary sinus
(Fig. 10.3) which can be a manifestation of other much rarer conditions
including left heart hypoplasia and TAPVD to coronary sinus
• Normally an incidental finding of no functional significance but
sometimes seen in association with other cardiac anomalies
• Bilateral SVCs can be associated with coarctation (E pp. 98–100) but
may also accompany ventricular and arterial disproportion (left-​sided
structures smaller) in the absence of coarctation; the mechanism for this
is unclear.
8

88 Chapter 10   Left-sided abnormalities

Fig. 10.3 Prominent coronary sinus in 4-​chamber view.

 

Venoatrial junction 89
90

90 Chapter 10   Left-sided abnormalities

Atrioventricular junction
Mitral atresia (absent left AV connection)
Incidence
• A rare anomaly.
Anatomy
• Complete obstruction to flow across mitral valve.
Associated cardiac anomalies
• Part of hypoplastic left heart syndrome (E pp. 95–7).
• Or in conjunction with double outlet right ventricle with or
without VSD.
• Great arteries may be discordant.
• Coarctation if VSD present and arteries normally connected.
• Pulmonary stenosis/​atresia if arteries are transposed.
Haemodynamics
• Dependent on left-​to-​right flow at atrial level which can become
restricted at foramen ovale.
• If an arterial outflow is dependent on VSD:
• VSD can become restrictive
• resulting in stenosis or atresia of relevant arterial outlet.

U/​S features
• 4-​chamber views are abnormal with marked atrial and ventricular
disproportion (Fig. 10.4).
• The mitral valve is seen as a small rigid structure with no flow across it
demonstrable by Doppler interrogation.
• All left-​sided structures small.
• Flow at atrial level will be exclusively left to right (Fig. 10.5).
• Associated lesions should be identified.
Association with non-​cardiac anomalies
• Variably reported, no consistent pattern.
Postnatal prognosis and management
• Largely determined by size of LV but rarely suitable for biventricular
repair.
• Duct dependency will be determined by associated lesions.
Mitral hypoplasia
• Definition subjective but can be helped by use of Z-​scores (obtained
from one of the readily available Apps).
• May evolve into atresia/​hypoplastic left heart.
• Essentially similar associations and haemodynamic consequences to
atresia.
• Valve looks to open on imaging and Doppler may reveal regurgitation
more readily than forward flow.
• Occasional overall small left heart without major valvar obstructions
remains suitable for biventricular repair (often with coarctation).
 

Atrioventricular junction 91

Fig. 10.4  4-​chamber view in atrial systole/​ventricular diastole. Small MV does not

open, TV is fully open. LV cavity is small. Left AV valve atresia (‘mitral atresia’).

Fig. 10.5  4-​chamber view with colour flow Doppler showing L-​to-​R flow across
foramen ovale in left heart obstruction. (See colour plate section).
92

92 Chapter 10   Left-sided abnormalities

Ventriculoarterial junction
Aortic stenosis
Types
• Supravalvar:
• Rarely identified in the fetus.
• Strongly associated with Williams syndrome.
• Very rarely autosomal dominant.

• Subvalvar:
• Often associated with interrupted arch with VSD or more complex

anatomy.
• Often a progressive postnatal finding rather than a fetal diagnosis.

• Valvar:
• The commonest form present in the fetus and early post-​fetal life.

Aortic valve stenosis

Incidence
• 3–​6% of CHD with male:female ratio approximately 4:1.
• Severity ranges from mild to severe and often progresses in utero.
Associated cardiac anomalies
• Other left-​sided lesions including coarctation of the aorta.
• May be part of more complex CHD.
Haemodynamics
• Mild and moderate stenosis can be well tolerated in utero.
• Severe stenosis characterized by:
• LV systolic function reduced
• LV dilation
• LV wall hypertrophy
• progressive mitral regurgitation
• left-​to-​right flow can develop at atrial level (bidirectional atrial flow

can be a feature in normal hearts at later gestation).

• Left ventricular hypertrophy with progressive cavity obliteration may
result in hypoplastic left heart.
• Considered critical if hydrops develops or likely to be duct dependent
postnatally.
U/​S features of valvar stenosis
• Mild stenosis may be difficult to detect prenatally.
• Valve may look thickened (Fig. 10.6) or doming (i.e. restricted opening
of leaflets).
• In more severe cases the valve ring is small.
• There may be post-​stenotic dilatation of the ascending aorta.
• If the LV is healthy, blood velocity in the ascending aorta will be
increased (Fig. 10.3; E Chapter 6).
• Ascending aortic Doppler velocity falls or becomes normal as LV fails.
• Aortic Doppler waveform reveals retrograde flow in transverse and
even ascending aorta if critical.
 

Ventriculoarterial junction 93

• LV may appear normal but may become either:

• dilated with poor contractility (Fig. 10.7) and mitral regurgitation, or
• hypertrophied with a LV small cavity and reduced contractility.

• Lining of the LV cavity may become bright and echogenic due to

development of endocardial fibroelastosis (Fig. 10.8).

Fig. 10.6 Long axis in ventricular systole showing thick doming and poorly opening AoV.

Fig. 10.7  Whole body sagittal section showing dilated LV and evidence of hydrops.
94

94 Chapter 10   Left-sided abnormalities

Fig. 10.8  4-​chamber view with dilated LV and echobright endocardium indicating

endocardial fibroelastosis.

Evolution and prognosis in utero

• This lesion usually progresses during pregnancy.
• In severe and critical AS, hydrops may develop leading to
intrauterine death.
• Deterioration in LV function and diminishing LV volume may indicate
that a functioning LV may not be achievable postnatally.
• This observation may be a reason to consider:
• balloon dilatation—​this is controversial
• delivery if a viable gestation has been reached

• The poor prognosis associated with severe AS may justify consideration

of an in utero procedure to relieve obstruction before LV failure occurs.
Association with non-​cardiac anomalies
• Isolated valvar AS has a low association with non-​cardiac anomalies
although can be associated with syndromes including:
• Turners syndrome (AS generally commoner in males)
• Noonan syndrome (rarely).

Postnatal prognosis and management

• Depends on severity of stenosis and LV function.
• If favourable, percutaneous balloon valvuloplasty may provide a good
relief of stenosis.
• For others, open surgical valvotomy may be needed.
• Valve replacement is likely in time.
• A few are not suitable for biventricular repair.
• Irreversible and progressive pulmonary vascular disease may give a poor
outlook in the long term even if biventricular repair has been achieved
early in life.
 

Ventriculoarterial junction 95

Aortic atresia
• Usually seen in the context of hypoplastic left heart syndrome (see
following topic).
Hypoplastic left heart syndrome
Incidence
• Approximately 1% of structural CHD but represents a higher
percentage of cases identified prenatally.
Anatomy
• Variations in precise anatomical phenotype are recognized.
• For classical HLHS, there is both mitral and aortic atresia resulting in a
small, diminutive LV (Fig. 10.4) and absence of flow through the left side
of the heart.
• In some, left heart structures are significantly hypoplastic in spite of a
small amount of flow through both mitral and aortic valves; these cases
may be considered as HLHS:
• Establishing whether a biventricular circulation will be achievable

postnatally in these cases can be difficult; if the LV is not apex form-

ing, a 2-​ventricular strategy may be unachievable.
Associated cardiac anomalies
• Pulmonary venous drainage is occasionally anomalous.
• All left-​sided structures are small including the aortic arch.
• There may be discrete coarctation.
• Rarely a VSD exists and is large enough to result in less severe LV
hypoplasia and forward flow through the aortic valve.
• Coronary AV fistulae may occur.
Haemodynamics
• Absence of flow through the mitral valve causes left-​to-​right shunting
through the atrial septum.
• Increased pressure in the left atrium may result in premature closure of
the foramen ovale.
• Further increases in left atrial pressure increases pressure in the
pulmonary veins with potential irreversible damage to the pulmonary
vasculature.
• The LA may decompress through an ascending vein joining the
innominate vein (laevo-​atrio-​cardinal vein).
• Coronary and cerebral perfusion is maintained by retrograde flow from
the arterial duct into the aortic arch.
U/​S features
• From early in gestation marked disproportion in ventricular size is
obvious on the 4-​chamber view.
• Left-​sided structures may be so small that they are hard to define.
• Lining of the LV may be bright and echogenic due to endocardial
fibroelastosis (Fig. 10.8).
• The pulmonary artery is prominent and the aorta threadlike.
• Doppler will demonstrate absent (or minimal) forward flow through
both mitral and aortic valves with retrograde flow in the aortic arch
(Fig. 10.9).
96

96 Chapter 10   Left-sided abnormalities

Fig. 10.9 Long-​axis view of aortic arch with red colour flow Doppler (CFD) signal
indicating flow towards the transducer in the arch, that is to say, retrograde filling
from the DA. (See colour plate section).

• Colour Doppler will show entirely left-​to-​right flow across the atrial
septum.
• Some features that suggest less favourable prognosis may be identifiable
prenatally including:
• tricuspid regurgitation, which may be severe
• abnormal flow pattern in pulmonary veins (E Fig. 10.2a)
• high-​velocity (>1 m/​s) left-​to-​right flow across foramen ovale

(Fig. 10.10).
Evolution and prognosis in utero
• Usually well tolerated during pregnancy.
• Tends to progress in terms of:
• hypoplastic but initially patent valves may become atretic
• foramen ovale may close
• right ventricular function may become compromised.

• The possibility of further damage to lung vasculature if the atrial septum

closes is the rationale for considering an in utero procedure to open and
then to stent a gap in the atrial septum.
Association with non-​cardiac anomalies
• In the majority of cases HLHS is an isolated finding but can be seen in
association with some chromosomal anomalies including:
• Turner syndrome
• Other less common chromosome anomalies.
 

Ventriculoarterial junction 97

Fig. 10.10 Oblique view of IAS with CFD showing aliasing (i.e. high velocity) in the
L-​to-​R flow across the foramen ovale. Severe left heart obstruction. (See colour plate
section).

Postnatal management and prognosis

• Without treatment, death occurs when the arterial duct closes in the
first 5–​10 days after birth, longer survival is rare.
• Surgical treatment for HLHS is palliative and involves surgery in the
early newborn period (the Norwood procedure) and at least 2 further
operations during the pre-​school period to establish a cavo-​pulmonary
(Fontan type) circulation but even after this:
• the chances of reaching school age and beyond is approximately 50%

when a decision is made at the time of fetal diagnosis for active post-
natal management
• survival with a good quality of life may be achieved but long-​term

outcome is still to be fully evaluated.

• Transplantation is an alternative to the Norwood procedure but is rare
or impossible in many countries.
• The indications for and validity of opting for palliative care postnatally
are matters for ongoing discussion
98

98 Chapter 10   Left-sided abnormalities

Arterial abnormalities
Coarctation of the aorta
Incidence
• 8–​10% of CHD with male:female ratio approximately 2:1.
Anatomy
• Coarctation of the aorta is recognized in 3 forms depending on age at
presentation:
• neonatal
• infant
• adult.

• These may or may not represent a spectrum of the same disease.

• The neonatal form, by virtue of its early presentation, is more likely to
have features which can be identified prenatally.
• Narrowing of the aorta, usually distal to the 3rd head and neck vessel
(left subclavian artery) and just distal to the aortic isthmus, close to the
site of DA attachment to the aorta.
Associated cardiac anomalies
• Associations include:
• bicuspid aortic valve in up to 85% of cases
• potential to develop subaortic stenosis
• VSD in around 25% of cases
• left SVC is associated.

• Coarctation is also seen in conjunction with complex CHD.

Haemodynamics
• Forward flow through all left-​sided valves is present.
• Obstruction from coarctation will not develop until after the arterial
duct closes; thus this diagnosis can be suspected but not proven until the
postnatal circulation is established.
U/​S features
• For those presenting neonatally, significant ventricular and arterial
disproportion is usually present by the 20-​week anomaly scan
(Fig. 10.11).
• PA may be up to twice as big as the aorta.
• 3-​vessel view may demonstrate a small transverse aortic arch
(Fig. 10.12).
• In the presence of VSD, ventricular disproportion may be less obvious
but arterial disproportion will still be present.
• However, it is a difficult diagnosis to make prenatally because:
• some ventricular disproportion (RV >LV) is normal, especially during

the 3rd trimester

• PA is normally >aorta in 3rd trimester
• such disproportion is also seen in the presence of a left-​sided SVC

and an otherwise structurally normal arch and heart

• arch may look normal whilst DA is patent.
 

Arterial abnormalities 99

Fig. 10.11  4-​chamber view showing disproportion (RV >LV) but both ventricles
form the cardiac apex.

Fig. 10.12  3VT view showing small Ao in likely case of coarctation.

01

100 Chapter 10   Left-sided abnormalities

Evolution and prognosis in utero

• This lesion is well tolerated while the duct remains open.
• The features may become more obvious as gestation increases.
• Aortic stenosis may develop in those with an abnormal aortic valve.
Association with non-​cardiac anomalies
• Chromosomal anomalies, particularly Turner syndrome:
• 30% of Turner syndrome have a coarctation but may not present in

the neonatal period and therefore not be suspected prenatally.

• Other rarer chromosome anomalies.

Postnatal prognosis and management

• If the fetal diagnosis is strongly suspected and there may be delay in
postnatal cardiology assessment, prostaglandin should be commenced
intravenously in the early hours after birth.
• Coarctation presenting in the neonatal period requires surgery with a
high success rate; long-​term follow-​up is appropriate and sometimes a
further intervention is required, usually in the form of a transcatheter
procedure.
Interrupted aortic arch
Incidence
• 1% of critical neonatal CHD.
Anatomy
• Total interruption of the aortic arch.
• Classification is based on the site of interruption.
Associated cardiac anomalies
• A VSD is usually present.
• The aortic valve is often bicuspid.
• May be seen in association with a common arterial trunk.
Haemodynamics
• Coronary arteries and those head and neck vessels proximal to the
interruption will be perfused from the LV.
• Those arch vessels distal to the obstruction will be perfused
retrogradely from the arterial duct.
• Blood supply to the lower body is dependent on the presence of an
arterial duct.
U/​S features
• Essentially similar those seen in coarctation:
• Ventricular disproportion, RV >LV.
• Arterial disproportion, PA >aorta.

• A VSD may be visible on 2D imaging and colour Doppler.

• There is often subaortic LV outflow narrowing on imaging.
• Interruption may be visible on imaging:
• Head and neck vessels proximal to interruption look like fingers

heading toward the head (Fig. 10.13).

• A ‘shepherd’s crook’ pattern of the normal aortic arch cannot be

identified.
• Doppler demonstrates retrograde flow to the distal arch from the
arterial duct.
 

Arterial abnormalities 101

Fig. 10.13  Arch view showing small ascending Ao dividing into 2 head and neck
branches (right (RCC) and left common carotid (LCC) arteries) and not continuing
into transverse arch. Interrupted aortic arch (there is also TGA in this case).

Evolution in utero
• Usually well tolerated during pregnancy.
• All features may become more obvious as gestation progresses.
Association with non-​cardiac anomalies
• Interrupted aortic arch has a strong association with non-​cardiac
anomalies.
• Particularly associated with 22q11 deletion syndrome.
Postnatal management and prognosis
• Neonatal circulation is duct dependent and tends to be less stable than
duct-​dependent coarctation.
• Early surgery to repair the arch and close the VSD will be necessary
and prognosis is largely defined by the size of the arch, length of
interruption, and the presence and nature of any other cardiac
anomalies.
Right aortic arch
Incidence
• Probably about 0.5% in situs solitus in a low-​risk fetal population.
Anatomy
• Most common mirror image of a left arch.
• Arch shape may vary.
• Branching abnormalities may occur, particularly aberrant right subclavian
artery from the descending aorta.
• Coarctation is only rarely described.
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102 Chapter 10   Left-sided abnormalities

Associated cardiac anomalies

• Complete situs inversus with dextrocardia is likely to have right
aortic arch.
• Intracardiac anatomy can be normal.
• Any intracardiac anomaly can occur but right aortic arch is particularly
highly associated with:
• tetralogy of Fallot
• pulmonary atresia with VSD.

Haemodynamics
• Of itself, arch side does not impact fetal haemodynamics.
U/​S features
• In 3VT view the aorta is seen to the right of the trachea (Fig. 10.14).
• It can be difficult to distinguish from double/​bilateral arch or persistent
5th arch.
Association with non-​cardiac anomalies
• May be isolated.
• Reported in association with chromosomal abnormalities even with
normal intracardiac anatomy (especially 22q11del).
Postnatal management
• Depends on the full cardiac diagnosis.
• An aberrant left subclavian artery arising distal to the right subclavian
artery may cause a symptomatic vascular ring and warrant intervention.
Aberrant subclavian artery
Incidence
• Aberrant right subclavian artery (ARSA) arising from a left aortic arch
may occur in up to 2% of individuals.
• Aberrant left subclavian from a right arch is much rarer.
Anatomy
• The right subclavian arises from the proximal descending aorta distal to
the left subclavian artery and crosses the mediastinum towards the right:
• most often behind the oesophagus
• it can be between oesophagus and trachea
• or in front of the trachea.

Associated cardiac anomalies

• Commonly there are none.
• Any form of structural CHD can be present.
Haemodynamics
• In utero it is very unlikely to be of any significance.
• Postnatally the potential for oesophageal and/​or tracheal compression
exists depending on coexisting features such as the side and position of
the arterial duct or its ligamentous remnant.
U/​S features
• Best seen in 3VT view (Fig. 10.15).
• Power Doppler (E Chapter 5) confirms low-​velocity flow from
descending Ao towards right.
• RSA not seen arising from first arch branch (innominate artery).
 

Arterial abnormalities 103

(a)

(b)

Fig. 10.14 Plain image (a) and annotated (b). 3VT view with right aortic arch passing
to right of trachea. * SVC.
041

104 Chapter 10   Left-sided abnormalities

Fig. 10.15  3VT view with left arch and ARSA.

Association with non-​cardiac anomalies

• Risk of non-​cardiac associations is probably increased and ARSA has
been described in trisomy 21 and other syndromes.
• Aberrant left subclavian artery from right arch is strongly associated
with 22q11del.
Postnatal management
• Specific management is not necessarily required.
• Surgery is indicated for symptoms or if cardiothoracic surgery is
indicated for other lesions and there is a strong risk of oesophageal or
tracheal compression.
Double aortic arch
• Incidence unknown.
• May be associated with intracardiac defects or arch abnormalities such
as coarctation or interruption.
• Described with oesophageal atresia.
• Incidence of syndromic associations unknown.
• In many series is the commonest symptomatic vascular ring.
• Echocardiographically difficult to distinguish from:
• right aortic arch with left DA which is much commoner ( E p. 101)
• persistent 5th arch (see following topic).

• The ascending aorta divides:

• A branch goes on each side of the trachea (and oesophagus).
• Each arch gives off 2 branches.
• Unless one is interrupted the branches rejoin in the mid thorax
• The right arch is the larger in at least 70% of cases.
 

Arterial abnormalities 105

• Unlikely to be of haemodynamic significance in utero.

• It is generally thought that symptoms or airway compression is likely in
early infancy.
• Thus if suspected will, careful neonatal assessment is indicated.
Persistent fifth aortic arch
• Incidence is unknown, probably very rare.
• Risk of syndromic associations unknown.
• The literature is confusing without universal agreement on the
diagnostic criteria.
• To be suspected if any unusual distal ascending aorta branching which
does not have characteristics of a double arch or an AP window.
• Is unlikely to matter in utero.
• Needs detailed neonatal assessment.
Vascular rings
• Many of the above-​mentioned variations/​abnormalities in aortic
arch side or branching pattern can be associated with compression of
the trachea and/​or oesophagus, as may distal origin of the LPA
(E Chapter 11).
• The presence or potential for a clinically significant vascular ring can
be hard to predict in utero and has been discussed under individual
conditions earlier in this section.
Aortopulmonary window
• Rare.
• May be associated with intracardiac or other arch anomalies.
• Rarely associated with syndromes.
• Can occur anywhere from proximal ascending aorta to transverse arch
(Fig. 10.16).
• Easily missed on U/​S scanning but features include:
• consistent drop out of signal on image in the same place between

aorta and main PA

• size varies between individuals
• colour flow Doppler shows low-​velocity right-​to-​left or bidirectional

signal.
• Haemodynamically insignificant in utero irrespective of defect size.
• Surgery indicated in infancy, timing and details dependent on:
• size of window
• other cardiovascular abnormalities present.
061

106 Chapter 10   Left-sided abnormalities

(a)

(b)

Fig. 10.16 Plain (a) and annotated (b). Oblique view of upper thorax showing

aortopulmonary window (APW) between main PA (MPA) and Ao.
 

Chapter 11 107

Right-​sided abnormalities

Venoatrial junction  108

Atrioventricular junction  110
Ventriculoarterial junction  116
Arterial abnormalities  126
081

108 Chapter 11   Right-sided abnormalities

Venoatrial junction
Azygous and hemiazygous veins
• Connection between the IVC and SVC territories—​azygous vein on the
right and hemiazygous on the left in situs solitus—​is normal but may be
seen echocardiographically.
• Bilateral SVCs are considered a variation of normal, with the left-​sided
one draining to the RA via the coronary sinus (E Chapter 10).
Abnormal systemic venous connections
Incidence
Poorly studied but increasingly detected as echocardiographic screening of
low-​risk pregnancies becomes more widespread and more detailed.
Spectrum of abnormalities
• Abnormalities of SVC and IVC are rare and are seen:
• with disorders of laterality (E Chapter 14)
• in sinus venosus type ASDs (rarely recognized in fetal life)—​the SVC

or IVC (superior and inferior type sinus venosus ASDs respectively)

straddle the defect so that blood flows partly into the LA.
• Absence of the portal vein is very rare, the umbilical vein joins directly
to the IVC.
• Absent ductus venosus with umbilical vein draining directly to RA:
• may be associated with cardiac lesions and postnatal persistent pul-

monary hypertension
• is a feature of a number of unusual/​rare syndromes and chromo-

somal abnormalities
• may be associated with diaphragmatic abnormalities
• has been reported associated with hydrops.

• Absent ductus venosus with drainage of umbilical vein through the liver
(Abernethy malformations):
• may be associated with postnatal portal hypertension
• warrants careful postnatal assessment.

Systemic venous anatomy in disorders of laterality

• An interrupted IVC is characteristic of left atrial isomerism. Hepatic
veins drain directly to RA and IVC blood flows through the diaphragm,
behind the heart to enter the either a right-​or left-​sided SVC.
U/​S features
• Depend on the anatomy present.
• It is important to identify umbilical vein, ductus venosus, and both
vena cavae.
• IVC usually does not enter RA:
• Azygous vein is behind the aorta passing into the thorax (Fig. 11.1)

Associated anatomical features and evolution in utero

• As an isolated anomaly, haemodynamic significance during pregnancy is
unlikely.
• The finding should alert to the possible diagnosis of heterotaxy or other
conditions mentioned previously.
• Postnatal assessment is appropriate, including defining splenic anatomy/​
status.
 

Venoatrial junction 109

Fig. 11.1  Long-​axis view showing vein behind descending aorta as both vessels pass
through the diaphragm. Doppler would reveal the nature and direction of flow in
each vessel to confirm that the aorta is anterior and that the posterior vessel has flow
towards the heart. The vein is to the left of the spine (ascertained in other views) and
is therefore strictly a hemiazygos vein. Diaph = diaphragm.
10

110 Chapter 11   Right-sided abnormalities

Atrioventricular junction
Tricuspid atresia
Incidence
• 1–​3% of CHD.
Anatomy
• The TV is absent and represented by a bar of tissue.
• Also referred to as ‘absent right atrioventricular connection’.
Associated cardiac anomalies
• In up to 30% of cases the great arteries are transposed.
• Presence of a VSD is essential for RV filling; postnatally an ASD is
needed for survival.
• When the great arteries are normally connected, the pulmonary artery
may be small and pulmonary stenosis may be present.
• When the arteries are transposed, the aorta may be underdeveloped
with the potential for coarctation to develop postnatally.
Haemodynamics
• In the absence of flow through the TV, blood entering the RA passes
through the foramen ovale to LA to LV and enters the RV via the
mandatory VSD.
• RV growth will depend on the size of the VSD, as will growth of the
artery that arises from this ventricle.
U/​S features
• The 4-​chamber view is abnormal (Fig. 11.2) with the following features:
• Small RV.
• Absent/​immobile right AV valve.
• VSD.

• Extended views will demonstrate:

• any restriction of flow through foramen ovale (rare)
• great artery connections
• relative size of arteries.

• Colour Doppler will confirm direction and velocity of flow.

• Flow in the ductus venosus may be abnormal with retrograde flow
during atrial systole:
• This is not of significance as an indicator of fetal well-​being.

Evolution and prognosis in utero

• Altered haemodynamics do not usually cause problems in utero.
• Restricted growth of RV and its corresponding artery is more likely if
the VSD is small.
• Serial assessment of the smaller artery is appropriate to establish the
likelihood of neonatal duct dependency.
Association with non-​cardiac anomalies
• Tricuspid atresia is usually an isolated lesion with a low association with
either karyotype or syndromal anomalies.
• Cases associated with trisomies have been reported.
 

Atrioventricular junction 111

(a)

(b)

Fig. 11.2  4-​chamber view—​plain (a) and annotated (b)—​in atrial systole showing an

open MV, no patent TV, a VSD, and small non-​apex-​forming RV.

Postnatal prognosis and management

• In cases where RV growth is severely restricted:
• may be duct dependent
• neonatal intervention may be required to secure pulmonary blood

flow or to repair coarctation

• not suitable for a biventricular repair
• usually suitable for a Fontan circulation.
12

112 Chapter 11   Right-sided abnormalities

Ebstein’s malformation and tricuspid valve dysplasia

Incidence
• Ebstein’s malformation represents <1% of CHD.
• Tricuspid dysplasia is rare and incidence is unknown.
• Tricuspid regurgitation is seen in the context of presumed viral
infections, twin–​twin transfusion or constriction of DA is considered a
form of dysplasia
Anatomy
• Ebstein’s malformation:
• Septal and posterior leaflets of the TV are attached closer to the

apex of the RV and may also be tethered.

• This causes part of the RV to be incorporated into the RA termed

atrialization of the RV.
• As a result, there is functional RV and TV hypoplasia often associated

with RA dilatation.
• Tricuspid valve dysplasia describes abnormal TV leaflets which may be
normally positioned but result in similar haemodynamics to those seen
in Ebstein’s malformation; in practice, it can to be hard to distinguish
prenatally.
Associated cardiac anomalies of both lesions
• Dysplasia is usually isolated, Ebstein’s anomaly may be so.
• VSD and PS sometimes occur.
• Many cases of pulmonary atresia with intact ventricular septum
(E pp. 118–20) also have Ebstein’s malformation of the tricuspid valve.
• May be seen in association with congenitally corrected TGA
(E Chapter 13).
Haemodynamics
• Tricuspid regurgitation is much commoner than stenosis.
• The RA may be enlarged.
• Forward flow through the pulmonary valve may diminish to the point of
functional pulmonary atresia.
• Pulmonary artery then fills retrogradely from the ductus arteriosus.
• Pulmonary regurgitation may develop, resulting in flow from aorta
through DA, PV, and TV to RA
• This is a critical and poorly tolerated situation with hydrops heralding
death which can also occur without progressive deterioration in
dysplastic valve disease in particular.
• The above-​mentioned changes are usually progressive so careful and
frequent monitoring through gestation is appropriate.
U/​S features
• The 4-​chamber view is abnormal (see Fig. 11.3) with:
• exaggerated off-​setting of the AV valves in Ebstein’s malformation
• thickened leaflets in dysplasia
• dilated RA
• increased C:T ratio.

• Beware of the normally positioned AV ring which is not at the same

level as the valve leaflets but appears like a tricuspid valve.
• Colour Doppler demonstrates degree of tricuspid regurgitation.
 

Atrioventricular junction 113

(a)

(b)

(c)

Fig. 11.3  (a) Plain and (b) annotated 4-​chamber view of Ebstein’s malformation

showing marked apical displacement of tricuspid valve septal leaflet (TV septal l).
(c) 4-​chamber view of dysplastic TV. Thickened leaflets but not displaced.
14

114 Chapter 11   Right-sided abnormalities

• Colour Doppler may demonstrate that flow in the pulmonary artery is

retrograde.
• Flow in the ductus venosus in atrial systole may become absent or
reversed.
• Hydrops may develop.
Evolution and prognosis in utero
• Milder forms of Ebstein’s malformation and TV dysplasia may be
unrecognized early in pregnancy especially on 2D imaging.
• This lesion tends to progress:
• TR increases
• RA enlarges
• C:T ratio increases
• Forward flow through the pulmonary artery diminishes
• Rhythm disturbances—​SVT or atrial flutter—​may develop as a result

of increasing size of RA.
• Unrestricted flow through the foramen ovale is important for fetal (and
postnatal) well-​being.
• In time, the heart may occupy most of the chest.
• Increasing C:T ratio may compromise lung development.
• Intrauterine death, particularly in the later stages of pregnancy may
occur in up to 25% of severe cases and very close monitoring in the 3rd
trimester is appropriate.
• Early delivery may be indicated if features of progression and worsening
haemodynamics are demonstrated.
Association with non-​cardiac anomalies
• Usually an isolated finding but has been reported in association with
trisomies or other structural anomalies.
• The association with maternal lithium therapy is recognized but may
previously have been overstated.
Postnatal prognosis and management
• This depends on the severity of the lesion and the degree of associated
pulmonary hypoplasia.
• In mild to moderate cases, no specific treatment may be needed and
the degree of TR may improve as pulmonary vascular resistance falls,
enabling increased forward flow through the pulmonary artery.
• In severe cases, options include performing an atrial septostomy and
surgery to the TV.
• Mortality for severely cyanosed infants is high.
• Tricuspid dysplasia may improve structurally as well as
haemodynamically after birth (or occasionally even before delivery in
mild cases or in the context of TTTS (E Chapter 23).
 

Atrioventricular junction 115

16

116 Chapter 11   Right-sided abnormalities

Ventriculoarterial junction
Pulmonary stenosis
Incidence
• 5–​8% of CHD.
Anatomy
• May be subdivided into:
• valvar (90%)
• subvalvar (infundibular)
• supravalvar

• Valvar PS may be due to dysplastic valve leaflets.

• Subvalvar PS may be due to malalignment of the ventricular septum
with VSD.
Associated cardiac anomalies
• PS is often seen as part of more complex CHD.
• Significant pulmonary regurgitation is unusual in utero and is usually a
manifestation of compromised cardiac function including:
• tricuspid valve abnormalities
• constriction of DA.

Haemodynamics
• Mild and moderate PS is usually well tolerated in utero.
• Severe PS may cause RV hypertrophy or dysfunction.
• PS can be associated with significant regurgitation:
• This is particularly seen with a small valve ring and underdeveloped

leaflets, termed absent pulmonary valve.

• If there is tricuspid valve abnormality as well, progressive TR can develop.
U/​S features
• Milder forms may not be detected in utero, especially earlier in pregnancy.
• For moderate and severe forms it may be possible to demonstrate
thickened, poorly mobile doming or dysplastic valve leaflets (Fig. 11.4).
• The pulmonary artery may be:
• smaller than the aorta
• dilated, particularly with absent pulmonary valve.

• Doppler will demonstrate acceleration across the right ventricular

outflow tract, ± a degree of pulmonary regurgitation.
• Flow in the ductus arteriosus will be anterograde but see E p. 116.
Evolution and prognosis in utero
• PS may progress prenatally, possibly even to critical pulmonary stenosis
or pulmonary atresia.
• If pulmonary atresia (or severe pulmonary stenosis) develops, flow in
the arterial duct becomes retrograde.
Association with non-​cardiac anomalies
• Pulmonary stenosis can occur in conjunction with several syndromes
including:
• Noonan’s syndrome, Leopard syndrome.
• Alagille syndrome when the obstruction is usually supravalvar and

difficult to identify in the fetus.

 

Ventriculoarterial junction 117

Fig. 11.4  Long-​axis view in ventricular systole showing doming, and poorly opening PV.

• Right ventricular outflow tract obstruction is recognized as an acquired

form of CHD which may develop in the recipient in TTTS:
• this may progress even when the TTTS process ceases (with

treatment or delivery)
• there is often RV hypertrophic cardiomyopathy in this setting.

Postnatal prognosis and management

• Type and timing of treatment will be determined by severity and
associated cardiac findings.
• Mild isolated forms may regress postnatally.
• If severe:
• may rarely be duct dependent
• may require early intervention usually by balloon valvuloplasty.

• Prognosis is determined by:
• accompanying cardiac abnormalities
• non-​cardiac associations.
18

118 Chapter 11   Right-sided abnormalities

Pulmonary atresia with intact ventricular septum (PAIVS)

Incidence
• <1% of CHD.
Anatomy
• The pulmonary valve is atretic represented by a bar of tissue, with no
flow across it.
• RV cavity fails to grow normally and may be rudimentary in size.
• Pulmonary artery size is variable.
• Occasionally pulmonary atresia is functional, secondary to severe TR
(E p. 112).
Associated cardiac anomalies
• In approximately ⅓ of cases, abnormalities of the coronary arteries
develop with the following variations:
• Abnormal origin and distribution.
• Sinusoidal communications between RV cavity and left or right cor-

onary arteries.
• Coronary arterial anomalies are seen more frequently when the RV is
hypoplastic and their presence is a poor prognostic sign.
• The tricuspid valve is rarely completely normal and may show:
• severe hypoplasia with stenosis
• Ebstein’s malformation.

Haemodynamics
• Flow from the right ventricle can only be retrograde—​as tricuspid
regurgitation with the potential for right atrial dilatation.
• Some coronary perfusion can be from the RV; this is more adverse
postnatally if the aortic diastolic or RV pressures fall after an
intervention.
• Lack of forward flow through the right side of the heart results in
progressive hypoplasia of RV and sometimes of the pulmonary artery.
• Flow in the arterial duct is retrograde to fill pulmonary artery branches.
• Flow in the ductus venosus may become retrograde in atrial systole.
• Flow across the foramen ovale is increased and non-​restrictive flow is
important for fetal well-​being.
U/​S features
• A 4-​chamber view of the heart is likely to be abnormal (Fig. 11.5) with a
small RV and in some a dilated RA.
• The pulmonary valve will appear as a solid bar of tissue which will show
very limited mobility.
• The pulmonary artery may appear relatively normal or may be small,
and occasionally hard to define.
• Doppler will demonstrate absence of forward flow across the valve and
retrograde flow in the arterial duct (Fig. 11.6).
• Ductal flow appears as forward flow in MPA as it ‘bounces’ off the
atretic valve to pass into pulmonary artery branches.
• Moderate to severe high-​velocity TR is usually present.
• Coronary sinusoids may be seen with colour Doppler.
 

Ventriculoarterial junction 119

Fig. 11.5  4-​chamber view of PAIVS in ventricular systole. The RV cavity is small, the
walls are thick, and the IAS bows markedly R to L.

Fig. 11.6  Long-​axis view with colour flow Doppler showing retrograde flow in DA
in PAIVS. (See colour plate section).
201

120 Chapter 11   Right-sided abnormalities

• Secondary/​functional atresia should be considered if:

• the RV cavity is a near normal size
• the pulmonary artery is a near normal size
• pulmonary regurgitation is present or develops
• there is a near normal-​sized tricuspid valve with Ebstein’s malforma-

tion or dysplastic leaflets

• there is severe TR.

Evolution and prognosis in utero

• This lesion is usually well tolerated in utero except in the rare case in
which the foramen ovale is severely restrictive.
• Lack of adequate flow through the right side of the heart with
progressive RV hypoplasia may prompt consideration of in utero
intervention to preserve RV growth and function and the possibility of
biventricular circulation postnatally
Association with non-​cardiac anomalies
• Usually seen in isolation.
Postnatal prognosis and management
• This lesion will be duct dependent.
• The size of the main pulmonary artery and RV will determine the
method of intervention.
• Biventricular circulation may be achievable if RV size is adequate.
• Establishing forward flow through the pulmonary valve by
radiofrequency ablation and balloon dilatation may allow adequate
growth of the RV over time.
• If the RV is considered too small to function, a shunt procedure is
performed in the neonatal period as the first step to a Fontan circulation.
• The presence of coronary sinusoids is associated with a risk of sudden
death and is considered in some countries as a reason to discuss
transplantation rather than conventional interventions.
Tetralogy of Fallot
Incidence
• 10% of CHD.
Anatomy
• Classically consists of 4 anatomical features:
• VSD in the outlet septum.
• Subpulmonary stenosis caused by anterior and cephalad deviation of

the ventricular septum.

• Overriding aorta as a consequence of the above-​listed features.
• RV hypertrophy (less obvious in the fetus).

Associated cardiac anomalies

• If the aortic override is >50% into the right ventricle, the lesion is described
as double outlet right ventricle (tetralogy type—​see E pp. 123).
• Branch pulmonary arteries may be small.
• May be associated with a right-​sided aortic arch.
• A small pulmonary valve ring with dysplastic leaflets may be associated with
large central PAs; this is termed absent pulmonary valve (E pp. 122–3).
• Complete AVSD may accompany tetralogy.
 

Ventriculoarterial junction 121

Haemodynamics
• Unrestricted flow into the aorta from both ventricles allows the aorta to
grow well.
• Flow into the pulmonary artery may be restricted to a variable degree
and growth of the pulmonary artery may be compromised.
U/​S features
• The 4-​chamber view may be normal although often the cardiac axis is
shifted leftwards.
• Extended views will demonstrate (Fig. 11.7):
• outlet VSD
• aortic override
• arterial disproportion (which can be subtle).

• Doppler may demonstrate increased blood velocity through the right

ventricular outflow tract and flow into aorta from both ventricles.
• The aortic arch is right sided in about 20% (Fig. 11.7e).
• There may be aortopulmonary collaterals from the aortic arch/​
descending aorta supplying some pulmonary blood flow.
• Pulmonary regurgitation and large pulmonary arteries are features of
the absent pulmonary valve variant (E pp. 122–3).
Evolution and prognosis in utero
• Arterial disproportion tends to progress as the right ventricular outflow
obstruction becomes more significant.
• The lesion is well tolerated in pregnancy and unlikely to cause fetal
compromise.
• Right ventricular outflow tract obstruction may progress to pulmonary
atresia.
Association with non-​cardiac anomalies
• Tetralogy has a strong association with non-​cardiac anomalies.
• Chromosomal anomalies include:
• trisomy 21
• trisomy 18
• trisomy 13
• 22q11 deletion
• other rarer anomalies.

• Syndromic with a recognized association include:

• VACTERL association
• Alagille syndrome
• CHARGE association

• Also associated with non-​cardiac structural anomalies where no specific

syndrome has been defined.
Postnatal prognosis and management
• Postnatal events are largely defined by the degree of right ventricular
outflow tract obstruction.
• Only a minority are duct dependent.
• Surgery for correction usually takes place during the first 6 months.
• A few cases have a systemic-​to-​pulmonary shunt as the first procedure.
21

122 Chapter 11   Right-sided abnormalities

(a) (d)

(b) (e)

(c)

Fig. 11.7  (a) Extended 4-​chamber view of tetralogy of Fallot showing VSD with
overriding great artery shown on other views to be Ao. (b and c) Outlet view of
tetralogy of Fallot—​plain (b) and annotated (c)—​of same case as (a) showing VSD
and overriding aorta. (d) Cephalad inclination of outlet view in tetralogy of Fallot
showing main PA approx. 50% diameter of Ao, PAs are confluent. (e) Same case a
few frames further on than (c) showing Ao to right of trachea—​tetralogy of Fallot
with right aortic arch.

Tetralogy with absent pulmonary valve (APV)

• Approximately 2% of cases of tetralogy of Fallot.
• Pulmonary valve ring is small and leaflets are rudimentary and dysplastic
(or even absent), producing both pulmonary stenosis and severe
pulmonary regurgitation (Fig. 11.8a–​c).
• Main pulmonary artery and pulmonary artery branches are usually
severely dilated causing compression of developing proximal airways
(Fig. 11.8d).
• The VSD is outlet in position as in tetralogy of Fallot.
 

Ventriculoarterial junction 123

• 4-​chamber view is usually abnormal with RV bigger than LV.

• Colour and pulsed wave Doppler demonstrate to-​and-​fro flow across
the right ventricular outflow tract with both the acceleration of stenosis
and regurgitation into RV (Fig. 11.8b, c, e).
• A ductus arteriosus is usually absent.
• Strongly associated with other anomalies particularly 22q11 deletion in
at least 25%.
• Less frequently a similar pulmonary valve anatomy is seen in association
with an intact ventricular septum when:
• there is usually a ductus arteriosus
• pulmonary arteries may not be as dilated.

• In utero, pulmonary regurgitation with RV dilatation may increase and

arteries become more dilated.
• Death in the neonatal period occurs in up to ⅓.
• Early correction of the anatomy is the aim but prognosis is mainly
determined by the degree of airway compromise.
Pulmonary atresia with VSD
• 1:10,000 live births.
• Some are essentially severe tetralogy.
• There is no connection between RV and PA, thus pulmonary blood flow
is either:
• retrograde through the arterial duct which may be in an unusual

position, or
• via collateral arteries arising directly from the aorta—​major

aortopulmonary communicating arteries (MAPCAs).

• Pulmonary artery branches may be normal, rudimentary, or absent.
• MAPCAs may be identified using colour Doppler:
• Number is variable.
• Usually arising from descending aorta distal to the arch.
• Occasionally arising from transverse aorta or head and neck branches.
• Can be hard to differentiate from DA.
• MAPCA anatomy can be difficult to define accurately in the fetus

although it has major implications for postnatal management.

• Differential diagnosis includes common arterial trunk which can be hard
to distinguish prenatally.
• May be seen in association with:
• karyotype anomalies, in particular 22q11 deletion
• other non-​cardiac structural anomalies.

Double outlet right ventricle

• Refers to the situation when at least 50% of both arteries arise from RV.
• Major subgroups are:
• without VSD—​usually with left AV valve atresia (E p. 90)
• with subaortic VSD and PS—​haemodynamics as in tetralogy or

­pulmonary atresia VSD (E pp. 120–1)

• with subaortic VSD without PS—​haemodynamics like VSD

(E Chapter 12)
• with subpulmonary VSD—​haemodynamics like transposition with

VSD (E Chapter 13)
• with VSD situated away from arterial valves (rarest form).
241

124 Chapter 11   Right-sided abnormalities

(a) (d)

(b)
(e)

(c)

Fig. 11.8  (a) Outlet view in systole showing thickened rigid PV and large main PA
(MPA). Tetralogy of Fallot with APV. (b) Same view using colour flow Doppler in
ventricular systole showing forward flow RV to PA with some acceleration across
PV. (See colour plate section). (c) Same view with colour flow Doppler in ventricular
diastole showing PA to RV flow, marked PI in tetralogy of Fallot with APV. (See
colour plate section). (d) Huge dilatation of MPA and branches (*) in tetralogy of
Fallot with APV. (e) CW Doppler across PV in tetralogy of Fallot with APV showing
to and fro signal (+ventricular diastole, −systole)
 

Ventriculoarterial junction 125

261

126 Chapter 11   Right-sided abnormalities

Arterial abnormalities
• Supravalvar stenosis in MPA is occasionally an isolated lesion.
• More commonly, discrete stenoses or hypoplasia is at the PA bifurcation
or beyond:
• May not be detectable in the fetus even if severe.
• May be associated with intracardiac abnormalities particularly tet-

ralogy of Fallot and pAVSD.

• May be associated with syndromes including Williams and Alagille

syndromes.
• Distal origin of LPA from the RPA:
• May be associated with other cardiac abnormalities.
• Results in LPA forming a sling around the trachea.
• May be associated with tracheal compression as well as with add-

itional tracheal/​bronchial stenosis or even atresia.

• Is a form of vascular ring (E Chapter 10).

• Alternative/​additional sources of pulmonary arterial supply from the

aorta is a feature of a number of conditions including:
• Tetralogy of Fallot and pAVSD
• sequestrated lobe of lung
• Scimitar syndrome.

• Such arterial vessels can be detected by imaging and Doppler although

they may be difficult to delineate accurately in the fetus.
 

Chapter 12 127

Septal anomalies

Atrial septal defect  128

Ventricular septal defect  130
Atrioventricular septal defects  136
281

128 Chapter 12   Septal anomalies

Atrial septal defect
Introduction
• The presence of a patent foramen ovale is essential for right-​to-​left flow
of oxygenated blood returning from the placenta to reach vital organs.
• Distinguishing between a patent foramen ovale and an ASD is difficult
and the diagnosis can only be made with certainty if the atrial septum
is virtually absent. It is suggested that if the size of the gap in the atrial
septum is greater than the diameter of the ascending aorta, then the
possibility of a significant ASD postnatally should be considered.
• Atrial shunting is particularly important in some structural cardiac
anomalies, particularly those affecting the AV junction, e.g. tricuspid
or mitral atresia (E Chapters 10 and 11). Restriction to flow at the
foramen level may have profound haemodynamic consequences leading
to fetal hydrops and intrauterine death.
• In some fetuses, the flap valve of the atrial septum is prominent and
appears to have redundant tissue moving into both atria; this is not an
abnormal finding but may be associated with an increased incidence of
atrial ectopic beats.
Ostium secundum ASD
Incidence
• 10% postnatal CHD but rarely diagnosed in utero (see ‘Introduction’).
• ASD is occasionally an autosomal dominant (often with a long PR interval).
Anatomy
• Defect in fossa ovalis, usually indistinguishable from foramen ovale (see
‘Introduction’)
Associated cardiac anomalies
• Any structural heart lesion.
Ultrasound features
• Defect in fossa ovalis on 4-​chamber view.
Non-​cardiac associations
• Holt–​Oram syndrome (E Chapter 2).
Postnatal prognosis
• Not usually haemodynamically significant for several years; if
spontaneous resolution has not taken place by 3–​4 years, closure, often
by a transcatheter procedure, is performed.
Sinus venosus type ASD
• These are adjacent to either the SVC/​RA junction or more rarely the
IVC/​RA junction.
• The SVC and right upper pulmonary vein straddle the defect in the
superior type.
• They are very rarely identified as isolated lesions in the fetus.
Ostium primum ASD
This lesion is more correctly described as a partial atrioventricular septal
defect (E p. 136).
 

Atrial septal defect 129

301

130 Chapter 12   Septal anomalies

Ventricular septal defect
Introduction
• VSDs are the most common form of structural cardiac anomaly
representing up to 25% of cases of CHD.
• VSDs can be:
• single or multiple
• different sizes
• in different positions
• isolated, or
• in association with other forms of CHD.

• These factors influence:

• prenatal detection rate
• fetal and postnatal haemodynamic significance
• likelihood for spontaneous closure.

• VSDs are classified according to their position or relationship to adjacent

valves.
• In practice, definition is often not clear cut, frequently with a degree of
anatomical overlap.
• For the purposes of fetal diagnosis, VSDs can be classified as follows:
• perimembranous VSD—​commonest
• inlet muscular VSD
• outlet muscular VSD
• muscular VSD—​mid and apical
• doubly committed subarterial.

Anatomy
• The membranous part of the ventricular septum:
• Small fibrous area in continuity with both tricuspid and aortic valves.
• In practice, the VSD usually extends into the surrounding muscular

septum—​hence ‘perimembranous’ VSD.
• The inlet septum:
• Lies between the inlet valves—​mitral and tricuspid.
• Posterior to the perimembranous area.
• Is the part of septum seen on a standard 4-​chamber view.

• The outlet septum:

• Lies just below the aortic valve.
• In the area where 2 great arteries cross.
• Anterior to the inlet area.
• Enables deviation of the ventricular septum and thus the potential to

cause narrowing of either outflow tract (deviation or malalignment).

• The remainder of the septum can be described as muscular and
subdivided into midmuscular or apical. VSDs here:
• are frequently multiple
• can be tiny, or
• so big that the ventricular septum is virtually absent and there is ef-

fectively a single ventricle, or

• somewhere between these sizes.
 

Ventricular septal defect 131

• Doubly committed VSDs are:

• much more common in the Far East than in the West
• associated with both arterial valves being at the same level and

adjacent.
Associated cardiac anomalies
• Found in combination with most cardiac anomalies.
• Perimembranous VSDs are seen in association with:
• coarctation of the aorta
• TGA.

• Inlet VSDs may be part of intermediate or complete AVSD.

• Outlet VSDs are an integral part of:
• tetralogy of Fallot
• double outlet right ventricle
• common arterial trunk.

• Muscular VSDs can be seen in combination with most structural cardiac

anomalies.
Haemodynamics
• Prenatally VSDs are haemodynamically less important as the 2 sides of
the heart function at equal pressures.
• Flow is usually low-​velocity right to left in the absence of LV outflow
obstruction.
• In some lesions (e.g. tricuspid atresia, mitral atresia, and double inlet
left ventricle), a VSD is the only route for blood to enter one of the
ventricles.
U/​S features
• Small VSDs may be overlooked prenatally on both imaging and by
Doppler assessment.
• Artefactual ‘dropout’ on imaging may be misleading, thus the need to
confirm a VSD in different views.
• Perimembranous VSDs (Fig. 12.1):
• Particularly elusive if small.
• May have tricuspid valve tissue around defect which will not protrude

into the RV as it does postnatally.

• Colour Doppler may confirm the defect.

• Inlet VSDs:
• Usually big.
• No offsetting of AV valves (Fig. 12.2).

• Outlet VSDs:
• Usually big.
• Loss of continuity from septum to aorta (Figs 11.3 and 11.7).
• Aorta (or pulmonary artery in transposition) may appear to override

the VSD (Fig. 12.3).

• Muscular VSDs:
• Many can be seen if the ventricular septum is carefully examined

(Fig. 12.4).
• Colour flow Doppler may give a clearer idea of size or reveal defects

unsuspected on imaging.
321

132 Chapter 12   Septal anomalies

Fig. 12.1  Anterior angulation from 4-​chamber view to show perimembranous VSD

near aortic outlet and just beneath the septal leaflet of TV.

Fig. 12.2  4-​chamber view ventricular systole showing closed AV valves without

offsetting and a large inlet VSD. Further views in the cycle would show separate AV
valve orifices and a normal atrial septum.
 

Ventricular septal defect 133

(a)

(b)

Fig. 12.3 Plain (a) and annotated (b) outlet view showing subaortic VSD with

override of the Ao.
341

134 Chapter 12   Septal anomalies

• Doubly committed defects are positioned under the leaflets of both

arterial valves, being more anterior than either perimembranous
or outlet defects. The common postnatal aortic regurgitation is not
usually seen.
Evolution and prognosis in utero
• VSDs in isolation are well tolerated in pregnancy.
• Perimembranous and muscular VSDs may close spontaneously in
childhood, sometimes even in utero.
Associated non-​cardiac anomalies
• Inlet VSDs, especially if part of a complete AVSD (E p. 136) have a
strong association with chromosomal anomalies, particularly trisomy 21.
• Outlet VSDs, in combination with the other recognized cardiac
anomalies, are strongly associated with non-​cardiac abnormalities, both
chromosomal and syndromic, in particular:
• trisomy 18
• trisomy 13
• 22q11 deletion.

Postnatal prognosis and management

• Depends on the haemodynamic status of the VSD which is
determined by:
• size
• number
• position
• presence of other anomalies.

• For larger defects treatment options include:

• surgical closure
• if the VSD is large or there are multiple defects or there are other

cardiac or extra cardiac problems, a pulmonary artery band may be

placed in early infancy to limit pulmonary blood flow
• transcatheter device closure is possible for a minority VSDs after

infancy.
 

Ventricular septal defect 135

Fig. 12.4  4-​chamber view image showing apparently small muscular VSD which with
colour flow Doppler is seen to be much larger. The blue Doppler signal reflects flow
from RV to LV, the predominant direction in flow for fetal VSD. (See colour plate
section).
361

136 Chapter 12   Septal anomalies

Atrioventricular septal defects

Introduction
• The atrioventricular septum:
• is the area identified by offsetting of the atrioventricular valves
• separates RA from LV (Fig. 4.2).

• Defects affecting this area may be:

• confined to the atrial portion (partial atrioventricular septal defect,

pAVSD), or
• Involve both the atrial and ventricular portion (complete atrioven-

tricular septal defect, cAVSD).

Partial atrioventricular septal defect
Incidence
• 1–​2% of CHD.
Anatomy
• Defect in the primum area of the atrial septum, adjacent and superior to
the AV valves.
• Previously referred to as a primum ASD.
Associated cardiac anomalies
• A cleft in the left AV valve is virtually always present.
• Cleft in the tricuspid valve may also be present.
• Abnormalities of the LV outflow tract or coarctation occasionally occur.
U/​S features
• 4-​chamber view is abnormal with the following features:
• Loss of offsetting of the AV valves (but still 2 separate AV valves).
• Defect in the lower part of the atrial septum (Fig. 12.5).

• Doppler may demonstrate flow in this area and often AV valve

regurgitation.
• A prominent coronary sinus has a similar 2D appearance but AV valve
offsetting will be normal.
Evolution and prognosis in utero
• Well tolerated during pregnancy.
• Severity of AV regurgitation can change in either direction during
gestation and in the early newborn period.
Associated non-​cardiac anomalies
• May be isolated but also be seen in association with:
• chromosomal anomalies including trisomy 21 (up to 40%)
• some structural or syndromic anomalies
• laterality disorders, especially left atrial isomerism.

Postnatal management and prognosis

• Any neonatal clinical problems are likely to be related to other cardiac
or non-​cardiac accompaniments.
 

Atrioventricular septal defects 137

Fig. 12.5  4-​chamber view in ventricular diastole showing intact inlet ventricular

septum, separate open AV valves, and no atrial septum adjacent to the AV
valves: pAVSD.

• Surgery will almost certainly be required to close the defect (± repair

of the AV valve); timing is influenced by:
• associated lesions
• degree of AV valve regurgitation
• size of atrial shunt.

Complete atrioventricular septal defect

Incidence
• 2% of CHD.
Anatomy
• Essentially 3 main components of this defect:
• ‘Primum’ ASD.
• Inlet VSD.
• Single ‘common’ AV valve.

• Previously described as an endocardial cushion defect.

Associated cardiac anomalies
• May also be seen in association with
• other VSDs (muscular)
• tetralogy of Fallot
• right and left isomerism (E Chapter 14).

• May be ‘unbalanced’ if the common valve is committed more to one

ventricle, with the potential for hypoplasia of the other ventricle and the
corresponding artery.
381

138 Chapter 12   Septal anomalies

U/​S features
• The 4-​chamber view will be abnormal (Fig. 12.6) with the following
features:
• loss of offsetting of the AV valves
• functionally single AV valve
• defect in lower part of atrial septum
• defect in inlet part of the ventricular septum
• RV commonly a little larger than LV.

• Doppler may demonstrate regurgitation of the common valve.

• Features of any associated outflow tract abnormalities particularly if
ventricles markedly unbalanced.
Evolution and prognosis in utero
• Usually well tolerated although hydrops and intrauterine death is
recognized, particularly in the context of an abnormal karyotype.
• A minority of cases develop atrial dysrhythmias.
Association with non-​cardiac anomalies
• In 50–​75% of cases diagnosed prenatally there is coexistent trisomy 21.
• Also seen in association with trisomies 13 and 18.
• Recognized in the context of other syndromes including VACTERL and
CHARGE associations.
• Laterality disorders, particularly right atrial isomerism, usually with
severe pulmonary outflow obstruction.
Postnatal management and prognosis
• Corrective surgery usually performed by 6 months of age.
Intermediate type AVSD
This expression is used when the ventricular component is small and there
are separate AV valve orifices. Determining the size or even the patency of
the ventricular component can be difficult in the fetus.
 

Atrioventricular septal defects 139

(a)

(b)

Fig. 12.6  (a) 4-​chamber view in ventricular systole of cAVSD. (b) 4-​chamber view

in ventricular diastole of cAVSD showing single AV valve orifice.
401
 

Chapter 13 141

Abnormal
ventriculoarterial
connections

Introduction  142
Transposition of the great arteries  144
Congenitally corrected transposition of the great arteries  148
Truncus arteriosus (common arterial trunk)  150
421

142 Chapter 13   Ventriculoarterial connections

Introduction
A normal 4-​chamber view of the heart identifies the atria and ventricles and
demonstrates normal atrioventricular connections but extended views are
necessary to identify the great arteries as they leave the heart thus defining
ventriculoarterial connections. Abnormal ventriculoarterial connections that
are part of complex lesions are considered with the relevant lesion in other
parts of the book.
 

Introduction 143
41

144 Chapter 13   Ventriculoarterial connections

Transposition of the great arteries

Incidence
• 5% of CHD with male:female ratio of 3:1.
Anatomy
• ‘Discordant ventriculoarterial connections’:
• Aorta arises from the morphological right ventricle.
• Pulmonary artery arises from the morphological left ventricle.

Associated cardiac anomalies

• In isolation is termed simple TGA.
• VSD is present in up to 40% of cases of TGA.
• Coarctation of the aorta.
• Pulmonary stenosis by several possible mechanisms, often with VSD.
• Aortic stenosis is less common.
• Can also be associated with complex CHD.
Haemodynamics and fetal significance
• Higher oxygen saturation in the pulmonary artery than the aorta may
well be important in the development of both closure of DA (see later
in this topic) and of postnatal persistent elevation of pulmonary vascular
resistance.
• The effect of blood supplying the developing brain having mainly
come from SVC and not the placenta is a matter for much debate as
its metabolic content as well as oxygen saturation is different from a
normally connected heart.
U/​S features
• 4-​chamber view is usually normal:
• Offsetting may be very subtle

• Extended views demonstrate discordant arterial connections:

• Left ventricle gives rise to the artery which divides as it passes

posteriorly.
• Right ventricle gives rise to the artery from which the head and neck

vessels arise.
• The two great arteries are in parallel with aorta anterior (Fig. 13.1).
• The arterial valves when seen in the same view are in the same plane as
opposed to being at right angles in a normally connected heart (Fig. 13.2).
• A normal 3-​vessel view cannot be convincingly obtained.
• Doppler may demonstrate an abnormal pattern or velocity through the
arterial valves in the presence of additional pathology.
Evolution and prognosis in utero
• The lesion is usually well tolerated in utero.
• In some fetuses, the arterial duct and atrial septum become restrictive
as indicated by:
• thickened rigid or hypermobile atrial septum
• absence of clear colour flow signal through foramen ovale
• constricted DA on imaging
• bidirectional Doppler signal in DA.
 

Transposition of the great arteries 145

(a)

(b)

Fig. 13.1  (a) Long-​axis view showing great arteries in parallel with Ao anterior
arising from RV. (b) Short-​axis view showing Ao anterior and to right of PA.
461

146 Chapter 13   Ventriculoarterial connections

(a)

(b)

Fig. 13.2  (a) Short-​axis view of normally related great arteries in ventricular diastole
showing valves in plane at right angles to each other. (b) Long-​axis view in TGA in
ventricular diastole showing arterial valves in the same plane as each other.
 

Transposition of the great arteries 147

• Monitoring in utero is appropriate and evidence of evolving restrictions

indicate that early postnatal intervention will be required.
• Absence of echocardiographic evidence of restriction of DA or
foramen ovale does not guarantee satisfactory early newborn status.
Association with non-​cardiac anomalies
• Simple transposition is usually an isolated lesion having a low association
with non-​cardiac anomalies.
• TGA is associated with maternal type 1 diabetes:
• The result of better diabetic monitoring and control is hard to

define.
• The role of gestational or type 2 diabetes is unclear.

Postnatal prognosis and management

• Timing for postnatal intervention will be determined by:
• size of the foramen ovale
• presence and size of a VSD
• size of arterial duct
• pulmonary vascular resistance.

• Prostaglandin is used to keep the arterial duct patent.

• Balloon atrial septostomy is performed in the early newborn period if
mixing of oxygenated and deoxygenated blood is deemed inadequate.
• The arterial switch operation is performed at an interval varying from
days to a few weeks.
• Long-​term follow-​up is appropriate but a normal quality of life is
anticipated.
481

148 Chapter 13   Ventriculoarterial connections

Congenitally corrected transposition

of the great arteries
Incidence
• <1% of CHD.
Anatomy
• Normal venoatrial connections.
• Abnormal:
• atrioventricular connections
• ventriculoarterial connections.

Haemodynamics
• Double discordancy allows for physiological correction:
• Blood returning to the heart from the lungs leaves the heart via the

aorta, but via the right ventricle.

• Blood returning from the head, neck, and body leaves the heart

through the pulmonary artery, but via the left ventricle.

Associated cardiac conditions
• May be seen in association with:
• dextrocardia (or mesocardia)
• VSD in up to 70% (usually perimembranous)
• pulmonary stenosis (or atresia)
• aortic stenosis
• coarctation of the aorta
• ventricular hypoplasia
• Ebstein’s malformation (or dysplasia) of the systemic (morphological

right) atrioventricular valve
• varying degrees of heart block including complete heart block which

may develop in utero or postnatally.

U/​S features
• Position of the heart might be abnormal.
• Situs solitus or situs inversus.
• Abnormal 4-​chamber view (Fig. 13.3):
• Offsetting reversed.
• Ventricular spatial relationship often unusual making a good 4-​chamber

view hard to achieve.

• Great arteries are usually in parallel and in any event with abnormal
ventriculoarterial connections.
• Additional anomalies as described previously.
• Bradycardia may be present if heart block occurs.
Evolution and prognosis in utero
• Isolated congenitally corrected TGA is usually well tolerated in utero.
• Valvar stenosis may progress during pregnancy.
• Systemic AV valve regurgitation may progress but not necessarily until
after birth.
 

Congenitally corrected transposition of t he great arteries 149

Fig. 13.3  4-​chamber view in congenitally corrected TGA showing reversed

offsetting of AV valves indicating AV discordance

• Heart rate may slow:

• 1st-​and 2nd-​degree heart block progresses to 3rd-​degree (com-

plete) heart block.
• Hydrops may develop in severe bradycardia or with severe AV valve
regurgitation.
Association with non-​cardiac anomalies
• Congenitally corrected TGA is usually an isolated lesion.
Postnatal prognosis and management
• In the absence of other structural cardiac problems or heart block this
diagnosis may go unrecognized for decades.
• In time, as a result of the right ventricle serving as the systemic ventricle,
signs of right ventricular dysfunction may develop.
• The presence and severity of other cardiac lesions will determine the
need for and timing of intervention and define prognosis.
501

150 Chapter 13   Ventriculoarterial connections

Truncus arteriosus (common

arterial trunk)
Incidence
• <1% of CHD.
Anatomy
• Single arterial trunk exits the heart and gives rise to
• coronary arteries
• aorta
• pulmonary arteries.

• In most cases this vessel over-​rides a large VSD.

• The ‘truncal’ valve is usually abnormal:
• May have 4 leaflets or even more.
• Usually regurgitant.
• Can be stenotic.

• Pulmonary arteries arise directly from the arterial trunk but with various
different anatomical arrangements:
• From a single origin from the ascending aorta which soon divides.
• Adjacent but separate.
• Separately from opposite sides of the ascending aorta.

Associated cardiac anomalies

• Aortic arch may be right sided.
• Arch may be interrupted.
• Unless arch is interrupted, there is not a DA.
Haemodynamics
• Often well tolerated.
• Truncal valve regurgitation or severe stenosis can cause cardiac failure.
U/​S features
• 4-​chamber view may be normal.
• 3-​vessel view will be abnormal.
• Extended views demonstrate a single vessel leaving the heart overriding
the VSD.
• Truncal valve may appear dysplastic on 2D imaging.
• Doppler may demonstrate regurgitation of the truncal valve.
• Pulmonary arteries may be seen arising from the common trunk
(Fig. 13.4).
• Interrupted aorta is characterized by a small ascending aorta giving rise
to head and neck vessels but no aortic arch.
Prognosis and evolution in utero
• Usually well tolerated in utero.
• Truncal valve may become progressively regurgitant.
Association with non-​cardiac anomalies
• Often (approx. 30%) associated with 22q11 deletion.
 

Truncus arteriosus (common arterial trunk) 151

Postnatal prognosis and management

• Neonatal surgical repair is usually performed unless other lesions or
syndromes contraindicate it.
• Non-​cardiac associations have an important impact on survival.

(a)

(b)

Fig. 13.4  Long axis (a) plain and (b) annotated showing VSD (x) and origin of main
PA from arterial trunk.
521
 

Chapter 14 153

Miscellaneous
abnormalities

Double inlet ventricle  154

Disorders of laterality  158
541

154 Chapter 14   Miscellaneous abnormalities

Double inlet ventricle

Incidence
• <1% of CHD.
Anatomy
• Both atrioventricular valves open into the same ventricle, virtually
always the morphological left ventricle.
• Double inlet right ventricle is exceedingly rare.
• Right ventricle is small and often rudimentary.
• VSD (sometimes termed ventriculobulbar foramen in this context)
allows blood entry to rudimentary (usually right) ventricle and the artery
arising from it.
• Arterial connections may vary:
• Normally connected, may have pulmonary outflow obstruction.
• Transposed, may have systemic outflow obstruction and/​or

coarctation.
Associated cardiac anomalies
• AV valve stenosis or regurgitation may be present.
• Great arteries may be abnormally related (E p. 142).
Haemodynamics
• Right ventricular filling is dependent on the presence of a VSD.
• If VSD is or becomes restrictive, growth of the right ventricle will be
further compromised.
• If VSD is restrictive there is in effect obstruction to flow into the artery
arising from the rudimentary (right) ventricle.
U/​S features
• The 4-​chamber view will be abnormal (Fig. 14.1) with the following features:
• Both inlet valves open into the single ventricle.
• The small rudimentary ventricle and VSD should be visible.

• Extended views demonstrate arterial disproportion with or without

ventriculoarterial discordance (Fig. 14.2).
• Arch views may show a small arch if the risk of duct-​dependent
coarctation exists.
Evolution and prognosis in utero
• This lesion is usually well tolerated during pregnancy.
• VSD may become restrictive.
• Arterial disproportion may increase.
Association with non-​cardiac anomalies
• Usually an isolated lesion.
Postnatal prognosis and management
• May be DA dependent.
• Surgical correction is not achievable and treatment is palliative and
depends on the anatomical variation but may include:
• systemic-​to-​pulmonary arterial shunt if inadequate flow to the lungs
 

Double inlet ventricle 155

• repair of coarctation with pulmonary artery banding if TGA

• procedure to bypass restrictive VSD in TGA (Damus–​Kaye–​Stansel
operation) or VSD enlargement
• Glenn procedure around 6–​12 months of age
• completion of total cavopulmonary connection before school age.

(a)

(b)

Fig. 14.1  4-​chamber view plain (a) and (b) annotated. Both AV valves open

predominantly into LV. Small RV accessed through VSD.
561

156 Chapter 14   Miscellaneous abnormalities

(a)

(b)

Fig. 14.2 Long-​axis view double inlet left ventricle and TGA plain (a) and annotated
(b) showing large LV, VSD, small RV and great arteries in parallel with Ao anterior.
 

Double inlet ventricle 157

581

158 Chapter 14   Miscellaneous abnormalities

Disorders of laterality
The usual arrangement of viscera (morphologic left lung and left atrium on
the left, stomach and spleen on the left, liver on the right) is termed situs
solitus. The complete mirror image of this is situs inversus. Situs ambiguus
is the term traditionally used to describe all other abnormalities of situs
­although many cases are either bilateral right-​sidedness (dextro-​isomerism)
or left-​sidedness (laevo-​isomerism). Although some cases have features
of both categories, the most typical features of each are described in this
topic. See also dextrocardia and heart and stomach on opposite sides
E Chapters 15 and 16.
Incidence isomerism (left or right or truly ambiguous)
• Approximately 2% of CHD, 1% of neonates with symptomatic CHD.
• Commoner if parents are consanguineous.
Anatomy (including associated cardiac and non-​cardiac
anomalies)
Left atrial isomerism
• Bilateral left-​sidedness, the classic features include the following:
• Bilateral left atria.
• Interruption of IVC which therefore does not drain into right atrium.
• Azygous (right side) or hemiazygous (left side) venous continuation

of the IVC passing through the diaphragm and behind the heart pos-
terior to the descending aorta and entering either a left or right SVC
(E Fig. 11.1).
• Hepatic veins drain directly into the atrial mass even in the occasional

case in which the IVC is not interrupted.

• In up to 30% of cases there is either a VSD or complete AVSD.
• There may be dextrocardia, mesocardia (heart in midline), or a nor-

mally positioned heart.
• Cardiomyopathy may be present or develop through gestation, usu-

ally LV non-​compaction with varying degrees of myocardial systolic

dysfunction.
• In the absence of a morphological right atrium (site of the sinus

node), the rhythm is nevertheless usually AV conduction with normal

AV conduction times.
• Varying degrees of heart block may develop, usually during the

2nd trimester.
• Complete heart block may be the presenting feature; cardiomyop-

athy is usually present also in these cases.

• Possible abnormalities of abdominal organs include the following:
• Presence of multiple spleens.
• Occasionally biliary atresia (difficult to exclude prenatally).
• Stomach may be on right.
• Intestinal rotation is always abnormal although this does not cause

volvulus in the majority.

• Careful planning of multidisciplinary postnatal assessments of these

features is important.
• With increasingly accurate screening, more cases of left isomerism
without haemodynamically significant cardiac findings are detected. The
splenic, intestinal, and hepatic issues still need to be evaluated.
 

Disorders of laterality 159

Right atrial isomerism

• There is bilateral right sidedness and asplenia (Ivemark syndrome),
features include the following:
• Bilateral right atria.
• Aorta and IVC are often both on the same side of the aorta at the

level of the diaphragm.

• Anomalous pulmonary venous drainage (no morphological left

atrium) either to innominate vein or SVC/​atrial junction.

• Complete AVSD which may be ‘unbalanced’ with one ventricle sig-

nificantly bigger than the other.

• Double outlet right ventricle with both arteries committed to the RV.
• Malposition of the great arteries with aorta anterior to the

­pulmonary artery.­
• Pulmonary stenosis (or atresia).
• Bilateral SVCs with absent coronary sinus.
• Cardiac malposition including dextrocardia.

• In addition, abnormalities of abdominal situs are frequently seen in

association:
• Stomach may be midline or on the right side.
• The same situation exists with respect to risk of volvulus as in left

isomerism.
• Liver is usually midline.
• Asplenia is usual in this situation (relevant to postnatal prophylactic

antibiotic and immunization).

• Thorough postnatal assessment of these matters is important.

Ultrasound features of isomerism states

• Position of IVC and aorta at diaphragm as described previously.
• Heart and stomach side must be confirmed.
• 4-​chamber view may be abnormal.
• Disproportion of ventricles or great arteries common.
• Abnormal rhythm (heart block) may be seen in left isomerism.
• Spongy myocardium in LV may be seen in left isomerism.
• Doppler may reveal regurgitant AV valve(s) or stenosed/​atretic
pulmonary outflow.
Non-​cardiac anomalies
• Most of the non-​cardiac structural anomalies associated with this group
of cardiac anomalies were mentioned previously.
• Association with chromosome anomalies is rare.
Prognosis
• The more serious cardiac anomalies may be associated with a poor
outcome:
• Duct-​dependent circulation is more likely with right atrial isomerism.
• In some, the cardiac anatomy is such that only palliative surgical

procedures are possible.

• Complete heart block with or without cardiomyopathy may lead to

hydrops and has a particularly poor prognosis.

• Asplenia is associated with an increased risk of bacterial sepsis.
• Recurrence risk for this group of cardiac anomalies is probably higher
than for other forms of CHD and may be as high as 10%.
601
 

Chapter 15 161

Abnormalities at a glance

Introduction  162
Abnormal appearances of the cardiac chambers  164
Abnormal appearances of the great arteries  166
Abnormalities of cardiac position  167
Abnormal cardiac axis  168
Abnormalities of the 3VT view  170
Abnormal cardiac rhythms  172
621

162 Chapter 15   Abnormalities at a glance

Introduction
• Although defining a precise cardiac anomaly can be challenging, it is
sometimes immediately obvious that there is something wrong with
either the anatomy or rhythm and that further assessment is needed.
• First impressions might suggest abnormalities of:
• cardiac position
• heart size
• chamber disproportion
• arterial disproportion
• rhythm disturbance
• reduced contractility.

• The following tables summarize the most frequently demonstrated

deviations from normal and list the differential diagnoses which should
be considered in the presence of specific observations.
• Further information on the diagnoses can be found in the relevant
chapters.
 

Introduction 163
641

164 Chapter 15   Abnormalities at a glance

Abnormal appearances of the cardiac

chambers
• The features of a normal 4-​chamber view of the heart are described in
E Chapter 6 and include:
• the heart is on the left and occupies ⅓ of the chest
• RA size is the same as LA
• RV is slightly larger than LV (especially in 3rd trimester) although

both reach the apex.

• See Table 15.1.

Table 15.1  Abnormal appearances of the cardiac chambers

Observation Consider
Big right atrium Tricuspid atresia
Ebstein’s anomaly
Tricuspid dysplasia
Idiopathic dilated RA, rare
Absent ductus venosus, umbilical vein draining directly to RA
Small right atrium Usually a reflection of enlarged left atrium
Big left atrium Left AV valve regurgitation
Aortic stenosis/​atresia
Small left atrium Hypoplastic left heart syndrome
Coarctation of the aorta
Total anomalous pulmonary venous drainage
Big right ventricle Normal variant
Coarctation of the aorta
Hypoplastic left heart
Cardiomyopathy
Constriction or premature closure of arterial duct
Absent pulmonary valve syndrome
RV diverticulum
Small right ventricle Tricuspid atresia
Pulmonary atresia with intact ventricular septum
Double inlet left ventricle
Unbalanced AVSD
Big left ventricle Severe aortic stenosis
Cardiomyopathy
Obstructive right heart lesions
 

Abnormal appearances of the cardiac chambers 165

Table 15.1  (Contd)
Observation Consider
Small left ventricle Normal variant
Coarctation of the aorta
Hypoplastic left heart
Interrupted aortic arch
Mitral atresia
Aortic atresia
Double outlet right ventricle
Unbalanced AVSD
Uniformly big Severe intrauterine growth restriction (small chest)
heart Cardiomyopathies
Hyperdynamic circulation, including:
• anaemia
•  arteriovenous fistula
Atria bigger than Restrictive cardiomyopathy
ventricles
Uniformly small Non-​cardiac anomalies including:
heart •  cystadenomatous malformations of the lungs
•  large pleural effusions
•  tracheal atresia
Lack of off-​setting cAVSD
of the AV valves pAVSD
Inlet VSD
Other structural anomaly
In some fetuses with trisomy 21 and otherwise structurally
normal hearts
Exaggerated Ebstein’s anomaly
off-​setting
Reversed Congenitally corrected TGA
off-​setting
61

166 Chapter 15   Abnormalities at a glance

Abnormal appearances of the great

arteries
• The normal appearance of the great arteries are described in
EChapter 6 and include:
• PA bigger than Ao, in late gestation diameter ratio up to 1.4:1
• arteries cross as they leave their respective ventricle
• arterial valves at right angles to each other.

• See Table 15.2.

Table 15.2  Abnormal appearances of the great arteries

Observation Consider
PA significantly bigger PS
than Ao Coarctation of the aorta
Hypoplastic left heart syndrome
Aortic stenosis or atresia
Absent pulmonary valve
Aorta bigger than Pulmonary atresia
pulmonary artery Tetralogy of Fallot
Pulmonary atresia with VSD
DORV with subaortic VSD and PS (‘Fallot type’)
Arteries in parallel Transposition of the great arteries
without cross-​over Congenitally corrected TGA
DORV with subpulmonary VSD ‘TGA-​type’
Only 1 artery visible Pulmonary atresia
Aortic atresia
Hypoplastic left heart syndrome
Common arterial trunk
 

Abnormalities of cardiac position 167

Abnormalities of cardiac position

• This subject is described in detail in E Chapter 16.
• It is essential to establish left and right sides of the fetus at the beginning
of the scan.
• See Table 15.3.

Table 15.3  Abnormalities of cardiac position

Observation Consider
Heart on right with apex to right Situs inversus
Heterotaxy:
•  left or right isomerism
Heart on right with apex to left Mediastinal shift:
•  space-​occupying lesion in left chest or
•  right lung hypoplasia
Heart midline, apex anywhere Normal variant
Any of the above
681

168 Chapter 15   Abnormalities at a glance

Abnormal cardiac axis
The cardiac axis is normally defined as at 45 degrees and to the left of the
midline; in the absence of an explanation in terms of an abnormality within
the chest or abdomen, significant changes in this angle by ± 20 degrees,
may be a marker for a structural cardiac lesion, particularly:
• tetralogy of Fallot
• pulmonary atresia with VSD.
 

Abnormal cardiac axis 169

701

170 Chapter 15   Abnormalities at a glance

Abnormalities of the 3VT view

• Criteria for a normal 3-​vessel trachea view (3VT) are described in
E Chapter 7 and include:
• PA > Ao > SVC
• arterial duct and aorta joining as a ‘V’ to the left of the trachea
• direction of flow the same in both vessels.

• For many lesions with an abnormal 3VT view, abnormalities in the 4-​
chamber and great artery views will already have been demonstrated
and will feature in the earlier tables in this chapter
• See Table 15.4.

Table 15.4  Abnormal 3VT view

Abnormal observation Consider
Vessel size
A. Small aorta Forward flow across LVOT
•  Coarctation of the aorta
Retrograde flow across LVOT
•  Aortic atresia
•  HLHS
Retrograde flow in transverse or distal Ao
•  Severe/​critical AS
•  Interrupted aortic arch
B. Small pulmonary Forward flow across RVOT
artery/​ductal arch •  Tetralogy of Fallot
•  Ebstein’s anomaly
•  Tricuspid atresia
Retrograde flow across RVOT
•  Pulmonary atresia
C. Dilated aorta Post-​stenotic dilatation of the aortic valve
•  Tetralogy of Fallot/​PA with VSD
D. Dilated pulmonary Post stenotic dilatation in PS
artery •  Tetralogy of Fallot with absent pulmonary valve
E. Dilated SVC Anaemia
•  Cerebral AV malformation
•  Left atrial isomerism with azygous continuation of
IVC to SVC
•  Supracardiac TAPVD
Vessel alignment Abnormal
•  TGA
•  DORV
 

Abnormalities of the 3VT view 171

Table 15.4  (Contd)
Abnormal observation Consider
Vessel number 2 vessels
•  Single great artery
   • Other artery tiny due to atretic valve
   • Common arterial trunk
•  TGA*
•  DORV*
* 2 arteries present but only 1 visible on 3VT due to
arrangement
4 vessels
•  Bilateral SVC (often with prominent coronary
sinus into which left SVC drains)
•  Double aortic arch
Relationship to trachea Ao right side of trachea
•  Right aortic arch (Ao and PA meet as ‘U’ behind
trachea
Ao seems to be both sides of trachea
•  Double aortic arch
•  Vascular ring
Ao and DA both to right of trachea (meet as a ‘V’)
•  Right duct + right aortic arch
Abnormal Doppler Flow in opposite directions
pattern •  Atresia or critical stenosis of an arterial valve
•  Retrograde filling of that artery via duct
Unexpected additional signals (on colour flow Doppler)
•  Aberrant vessels
721

172 Chapter 15   Abnormalities at a glance

Abnormal cardiac rhythms

• Features of a normal cardiac rhythm are described in E Chapter 16
(cardiac rhythm) and include:
• regular rhythm at rate 120–​160 bpm
• transient episodes of sinus bradycardia, especially in the 2nd

trimester.
• Irregular heart rate is usually due to atrial ectopic beats which are
common, usually benign, and a normal variant. See Table 15.5.

Table 15.5  Abnormalities of cardiac rhythm

Observation Consider
Tachycardia (>160 bpm) Sinus tachycardia (rarely >180 bpm)
SVT, including atrial flutter (usually >200 bpm)
Ventricular tachycardia (very rare in the fetus)
Bradycardia (<110 bpm) Sinus bradycardia (many causes)
Blocked atrial ectopic beats
2nd-​or 3rd-​degree heart block
Irregular heart rate (usually Atrial ectopic beats, blocked and/​or conducted
with periods of normal heart See E Chapter 16 for rarer causes
rate)
 

Chapter 16 173

Abnormal cardiac position

Normal cardiac position and axis  174

Abnormalities of cardiac position  176
741

174 Chapter 16   Abnormal cardiac position

Normal cardiac position and axis

Situs solitus
• This is the normal arrangement; the heart:
• lies in the left side of the chest—​laevocardia
• apex points to the left at an angle of 45 degrees (normal range 30–​

60 degrees) as measured by the angle of the ventricular septum and

a perpendicular anteroposterior line through the spine.
• The IVC is to the right of the spine and anterior to the aorta on the left
side of the spine.
• The stomach is in the left side of the abdomen.
To confirm these relationships, it is important to get a 4-​chamber view in a
true cross-​section of the chest with a complete rib on each side; an oblique
view may give a false impression of heart size and position.
Most structurally and functionally abnormal hearts have situs solitus, but
this can never be assumed
 

Normal cardiac position and axis 175

761

176 Chapter 16   Abnormal cardiac position

Abnormalities of cardiac position

Alterations in the position of the heart may be due to:
• cardiac abnormality or
• non-​cardiac intrathoracic structural anomaly.
Structural cardiac anomalies
• Lesions recognized to be associated with an abnormal position,
especially in early gestation, include:
• tetralogy of Fallot (increased angle)
• double outlet right ventricle
• pulmonary atresia with VSD
• congenitally corrected TGA (dextrocardia in about 50%).

• Situs solitus with heart and apex to the right (sometimes called
dextroposition):
• Very rare.
• Apex points downwards or to the right.
• Other features of situs solitus (E p. 174).
• Absence of other thoracic pathology.
• Associated with structural heart abnormalities, may be minor.
• May be distinguishable from dextrocardia due to pulmonary abnor-

mality when the apex usually points to the left.

• Situs inversus—​a rare condition in which there is a mirror image
arrangement of thoracic and abdominal organs:
• Heart (and apex) is to the right side in the chest (dextrocardia).
• Stomach on the right in abdomen.
• Right aortic arch.
• Descending aorta is right of spine at the diaphragm.
• Liver mainly on left.
• Spleen on the right.
• IVC is on the left of the spine.
• The heart is usually normal although any structural abnormality may

be present including congenitally corrected TGA.

• There may be other family members with similar anatomy.
• Genetics are complex.
• A proportion may be associated with cilial dysmotility.

• Heterotaxy/​isomerism states:
• The heart may be on the right or the left with apex pointing to the

same side.
• there are often significant cardiac abnormalities (E Chapter 14).
• An essentially normal heart can occur, more commonly in left

isomerism.
• Stomach position varies or may be midline.
• Systemic or pulmonary venous drainage is usually abnormal

­depending on whether there is left or right isomerism.

• Ectopia cordis:
• The heart is partly or completely outside the thoracic cavity.
• There is usually an abnormal cardiac structure.
• In particular, double outlet right ventricle.
• May be part of the syndrome of pentalogy of Cantrell, including

­omphalocele, anterior diaphragmatic hernia, pericardial defect,

sternal cleft.
 

Abnormalities of cardiac position 177

Abnormality of development of thoracic contents

• These may have secondary effects on the position and/​or orientation of
the heart.
• Disorders include:
• congenital diaphragmatic hernia (Fig. 16.1), associated with increased

risk of CHD
• cystadenomatous malformation of the lung
• other rarer lung tumours
• compression due to pleural and/or pericardial fluid
• unilateral pulmonary hypoplasia/​aplasia, including sequestration and

abnormal venous as in Scimitar syndrome.

• In all these situations the apex usually still points to the left.
• Occasionally the primary abnormality is of abdominal contents,
particularly large exomphalos.

Fig. 16.1  Cross-​section through chest, well orientated (symmetrical ribs seen on

both sides of thorax) showing heart and apex displaced rightward due to a large left
congenital diaphragmatic hernia with stomach in the chest in the same transverse
plane as the heart.
781
 

Chapter 17 179

Fetal cardiac rhythm

Introduction  180
Identification of cardiac rhythm  182
Normal rhythms  186
Fast abnormal rhythms  190
Slow abnormal rhythms  200
Irregular rhythms  204
801

180 Chapter 17   Fetal cardiac rhythm

Introduction
Normal cardiac rhythm originates in the sinus node, a right atrial structure.
Atrial electrical depolarization is manifest on the ECG by a P wave and is
followed by atrial contraction.
Conduction to the ventricle is through the atrioventricular node and the
bundle of His (Fig. 17.1). Ventricular depolarization produces the QRS com-
plex on the ECG and is followed by ventricular contraction.
The interval between atrial and ventricular depolarization is measured
as the PR interval on a surface ECG. In the fetus, it is the consequence of
depolarization that is detected—​either muscle contraction or blood flow.
In sinus rhythm every atrial contraction is initiated from the sinus node
and is followed by a ventricular one and every ventricular contraction is
preceded by an atrial one originating from the sinus node. The interval be-
tween atrial and ventricular activity in the fetus is 110–​140 msec, depending
on the method used, gestation (interval increases with advancing gestation),
and resting heart rate. Serial measurements using the same method by the
same observer are desirable if sequential change is being looked for (as in
maternal antibody cases).

Sinus node

LA
Atrioventricular
RA node
Bundle of His

LV

RV

Fig. 17.1  Normal conduction pathways. Electrical activity can only pass from atrial
mass to ventricular tissue via the AV node and bundle of His.
 

Introduction 181
821

182 Chapter 17   Fetal cardiac rhythm

Identification of cardiac rhythm
Fetal ECG technology currently cannot be used as a standard clinical tool
to diagnose cardiac rhythm. There are several ways to assess rhythm using
ultrasound (Table 17.1):
• M-​mode echocardiography, by placing the cursor through an atrial wall
and a ventricular wall simultaneously (Fig. 17.2).
• Doppler echocardiography, using PW with a large enough sample
volume to interrogate simultaneously either:
• LV inflow and outflow or
• SVC and ascending aorta or
• pulmonary artery and vein (Fig. 17.3) which is easier than Ao/​SVC.

• Tissue Doppler imaging has been used to evaluate fetal AV conduction

times but is not in widespread clinical use.

Table 17.1  Relative advantages of ways of echocardiographic assessment

of fetal heart rhythm and AV time
M-​mode PW PW PW
LV in/​out A Ao/​SVC PA/​PV

Ease ++ ++ + +++
Rhythm ++ ++ +++ +++
AV time + ++ +++ +++
Each + indicates relative strength of technique.
A Ao, ascending aorta; AV, atrioventricular; LV, left ventricle/​ventricular; PA, pulmonary artery;
PV, pulmonary vein; PW: pulsed wave; SVC: superior vena cava.
 

Identification of cardiac rhythm 183

(a)

(b)

Fig. 17.2  (a) M-​mode of SR showing atrial (A) and ventricular (V) contractions and

calculation of heart rate (136/​min) by measuring the time between the same part of
the cardiac cycle in 2 consecutive cycles. (b) The same M-​mode trace showing the
onset of ventricular (l) and atrial (l) contractions and how VA and VA intervals can be
identified. In this case the rhythm is a long VA one, a feature of SR as well as of some
less common forms of SVT.
841

184 Chapter 17   Fetal cardiac rhythm

Fig. 17.3 PW Doppler waveforms from PA and PV, showing the ‘dip’ in velocity
in pulmonary vein (pv) which signifies atrial systole (*) and the arterial waveform in
ventricular systole allowing accurate measurement of the AV conduction time, in this
case 129 msec (normal).
 

Identification of cardiac rhythm 185

861

186 Chapter 17   Fetal cardiac rhythm

Normal rhythms
Sinus rhythm (SR)
Fetal heart rate can reach 180/​min up to 10 weeks’ gestation and falls to
between 110 and 160 by 12–​14 weeks. After 14 weeks, rates outside this
range warrant careful assessment of rhythm as they may indicate pathology.
Sudden transient sinus bradycardia
Can be physiological if it has the following features:
• Occurs before 32 weeks, much less common thereafter.
• Occurs only infrequently, not more than twice in 10 minutes.
• Bradycardia lasts not more than 10–​15 beats.
• Return to normal is by gradual increase in rate over 5–​10 seconds.
• Parameters of fetal well-​being are normal.
• Basic cardiac rhythm is sinus.
• Heart function is normal.
• No evidence of onset of labour.
Sustained sinus bradycardia (<110/​min)
• Rarely normal even if no haemodynamic compromise.
• See E p. 200 for detailed consideration.
Sinus tachycardia (consistently >160/​min)
Requires evaluation:
• Confirmation of rhythm by echocardiography (Figs 17.2 and 17.3):
• 1:1 AV conduction.
• Atrial activity precedes ventricular by normal interval with VA longer

than AV (E p. 183).

• Rate rarely sustained above 180/​min.
• Rate varies with fetal activity and sleep state.

• Full assessment of fetal well-​being.

• Exclude:
• Labour.
• Fetal sepsis.

• Consider maternal causes:

• Pyrexia, any cause.
• Thyrotoxicosis, active or previously treated.
• Drugs/​medication, e.g. sympathomimetics, excessive caffeine intake.

• Does not require treatment in and of itself.

Atrial (supraventricular) ectopics
Atrial ectopics/​supraventricular ectopics (SVEs) are a common normal
variant which usually resolve within a few weeks of detection. They are also
termed premature atrial contractions (PACs). They can either be:
• conducted to the ventricle or
• not conducted (blocked).
They are frequently first detected as an irregular heart beat during routine
midwifery evaluation.
 

Normal rhythms 187

Diagnosis of SVEs
• Can often be strongly suspected without echocardiographic assessment
of rhythm if heart rate by Doppler or cardiotocograph (CTG) shows
the following features:
• Is essentially regular with either occasional pause (if SVE blocked) or

apparent early beat followed by a pause (if SVE conducted).

• Suddenly slows by a recognizable fraction of the normal sinus rate

and suddenly reverts back or changes to a different slow and/​or

irregular rate. The pattern depends on SVE frequency, regularity
in relation to sinus beats and whether blocked or conducted. Thus
heart rates will be 65–​90 and regular if SVEs alternate with sinus
beats (that is 1:1) and somewhat faster but irregular if 1:2 or 1:3
relationship SVE to sinus beat occurs.
• Runs of several minutes of 1:1 sinus:blocked ectopic producing slow

and regular heart rhythm are quite common.

• Any of the echocardiographic methods for determining fetal rhythm can
be used for precise diagnosis (Fig. 17.4).
Significance of SVEs
SVEs are common and normal, and usually of no significance but:
• can cause anxiety to family and professionals
• rarely occur in labour but if frequent can make monitoring difficult
• blocked SVEs if not recognized as such can result in unnecessary
intervention for fetal bradycardia
• SVEs are associated with an increased risk of fetal (and neonatal)
supraventricular tachycardia (SVT):
• this is because at any age SVT can be initiated by an atrial ectopic in

susceptible individuals
• the risk of SVT appears to be greater if ectopics are blocked.
• overall risk of SVT is <5%.

• SVEs are more frequent if the fossa ovalis balloons from right to left
atrium toward the mitral valve (Fig. 17.5). This rarely has any other
significance to the fetus and often resolves after birth.
Management of SVEs
• Referral for detailed cardiac assessment is not required if:
• fetal health normal
• labour not commenced
• criteria/​features given previously apply
• resolve over timescale of a few weeks
• local protocol for irregular fetal heart known in antenatal clinics (see

Box 17.1).
• Detailed cardiac assessment involves:
• rhythm diagnosis
• definition of heart structure and function
• plan for follow-​up.

• If frequent in labour, monitoring is possible with the help of detailed

fetal echocardiography but caesarean section becomes more likely.
81

188 Chapter 17   Fetal cardiac rhythm

(a) (d)

(e)
(b)

(c)

(f )

Fig. 17.4  (a) M-​mode through atria (A) and ventricles (V). Some atrial contractions
are sinus in origin (s) and some are ectopics (e) in a ratio of 2:1. The ectopics are
not conducted to V, they are ‘blocked’. (b) The same rhythm sequence as manifest
by arterial PW signals from the umbilical artery giving an irregular heart rhythm.
(c) Enlarged M-​mode showing atria (A) and ventricular (V) walls with sinus (s) and
ectopic atrial beats (e) alternating. The ectopics are blocked so that ventricular rate
is slow (90/​min) but regular. (d) umbilical artery Doppler signal in the same case as
in (c) showing slow regular arterial pulsations. Blocked atrial ectopics alternating 1:1
with sinus beats. (e) M-​mode showing sinus beats (s) and a conducted atrial ectopic
(e) all of which result in ventricular contraction (v). The compensatory pause after
the conducted e gives an irregular heart rhythm at a normal rate. (f ) Umbilical artery
Doppler signal showing arterial pulsation after some conducted atrial ectopics and
after 3rd from left is a non-​conducted one.

• Follow-​up:
• By fetal heart rate assessment every 4–​7 days to rule out frequent

or sustained SVT until SVEs resolve, this can be done by referring

midwifery service.
• If resolve before term, no neonatal assessment required.
• If present at term or in labour, arrange neonatal ECG for rhythm and

for pre-​excitation (indicates an additional increased risk for SVT).

• If SVT noted, irrespective of duration, follow SVT assessment and

treatment protocol as discussed on E p. 190.

 

Normal rhythms 189

Fig. 17.5  4-​chamber view in ventricular systole showing aneurysm (an) of IAS

bowing from RA towards MV in left atrium.

Box 17.1  Irregular fetal heart rate detected at a

midwifery check
If other parameters of fetal health are normal, this is likely to be due to
atrial ectopics
Urgent referral to fetal cardiology is indicated at any stage the heart rate is:
• sustained, regular and slow (<110) or
• fast (>180).
Otherwise follow 1–​4 below:
1. If infrequent ectopics, reassure and arrange to listen again in 1 week.
2. If persist at 1 week, refer to hospital antenatal department for
confirmation of findings.
3. If antenatal department confirm findings, observe weekly for another
2 weeks.
4. If still present then refer to fetal cardiology.
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190 Chapter 17   Fetal cardiac rhythm

Fast abnormal rhythms

These present from 16 weeks’ gestation onwards with:
• heart rate above 160 bpm or
• fetal hydrops.
They can be either:
• supraventricular or
• ventricular.
General evaluation of fetal tachycardia
History
• Parental or other family history of relevance:
• arrhythmias
• cardiomyopathy

• Maternal drug ingestion (sympathomimetics, excessive caffeine).

• Maternal disease (thyrotoxicosis, current or previous).
Clinical assessment
This involves ascertaining the following:
• Fetal well-​being.
• Presence of oedema, pericardial, pleural, or ascitic fluid.
• Heart structure and function:
• Cardiomyopathy can be primary but more often secondary to

arrhythmia.
• Function should be reassessed when sinus rhythm is established.

• Rate:
• Usually above 180/​min, most often over 200.
• Incessant or paroxysmal.
• Percentage of a timed study (15 or 20 minutes) spent in tachycardia.
• Regular or irregular.

• Identifying cardiac rhythm as precisely as possible (E p. 182)

• Noting presence and type of ectopics if periods of sinus rhythm occur.
Sinus tachycardia
This is a normal rhythm and is considered in detail on E p. 186.
Supraventricular tachycardia (SVT)
More than 98% of fetal tachycardias are some form of SVT.
The term fetal SVT includes a variety of different rhythms with atrial
flutter being the only one that 2D scanning can identify separately. Thus
many publications describe SVT and atrial flutter but do not further classify
type of SVT.
Recognition of other types of SVT with M-​mode or Doppler echocardi-
ography is often possible and is outlined later in this topic. This clarification
may influence management.
Types of SVT
The following tachycardias are classified as supraventricular (Fig. 17.6):
Atrioventricular re-​entry tachycardia (AVRT)
• Commonest type of SVT in fetus (60–​75%).
• May be sustained or intermittent.
 

Fast abnormal rhythms 191

Ectopic focus

Accessory
pathway

Fig. 17.6 Diagrammatic representation of an AV accessory pathway, the substrate

for AVRT, the commonest form of fetal SVT, and of an ectopic focus which could
produce atrial ectopic beats or much more rarely an ectopic atrial tachycardia.

• Rate 190–​260/​min, usually 220–​240/​min

• Rate varies little in short term.
• Due to an accessory pathway between atria and ventricles
• Occasionally associated with cardiac abnormality especially:
• Ebstein’s malformation of tricuspid valve
• congenitally corrected transposition
• cardiac tumours (E pp. 220–1).

• Myocarditis/​cardiomyopathy.
• On M-​mode/​Doppler, atrial signal follows ventricular by a shorter
time than that to the next ventricular one, short VA time (Fig. 17.7a)
equivalent to the RP interval on postnatal ECG.
• In the short term, recurrent episodes are common.
• Most accessory pathways become non-​functioning in time, thus
predisposition to SVT resolves, sometimes by birth and frequently by
1 year of age.
• Some accessory pathways will be manifest by a pre-​excited ECG in sinus
rhythm after birth (Wolff–​Parkinson–​White syndrome).
Atrial flutter (20–​25% of fetal SVT)
• Due to a derangement of atrial activity resulting in a circular passage
of electrical activity around part of the atrial mass (sometimes termed
macro re-​entry) producing rapid atrial contractions.
• Atrial rate 350–​500/​min. (Fig. 17.7b).
• Ventricular rate depends on degree of atrioventricular block but 1:2 is
commonest giving rate of 180 to 250/​min.
• Degree of block may vary spontaneously or in response to treatment,
giving differing ventricular rates and irregularity at times.
• Occasional associations:
• Accessory pathways.
• Structural CHD (AVSD in 3–​4%).
• Heart muscle disease, which may be familial.

• Once sinus rhythm restored, recurrences are rare.

921

192 Chapter 17   Fetal cardiac rhythm

(a)

(b)

Fig. 17.7  (a) M-​mode of SVT (225/​min). Onset of atrial (A) and ventricular

(V) contractions shown by l and l respectively, demonstrating VA time shorter than
AV interval. Short VA SVT. (b) M-​mode atrial flutter showing atrial rate twice that of
ventricular rate. Automatic calculation by machine rarely precisely 2:1 but clearly A:V
conduction is 2:1 giving ventricular rate 265/​min.
 

Fast abnormal rhythms 193

Long VA tachycardias (10–​20%)

So named because the interval between ventricular and subsequent atrial
contraction is longer than from atrial to next ventricular contraction (ratio
VA:AV >1). This is also a feature of SR which can therefore make sinus
tachycardia difficult to distinguish (see Fig. 17.2).
Two arrhythmias are characterized by long VA:
• Atrial ectopic tachycardia (AET).
• Permanent junctional reciprocating tachycardia (PJRT).
These cannot be differentiated in the fetus. Both are:
• less likely to be intermittent than AVRT
• likely to be slower than AVRT (sometimes <200/​min)
• less likely to respond to digoxin than AVRT or atrial flutter (see
Box 17.2)
• less likely than AVRT to resolve in infancy.
Very rare types of fetal SVT
• Junctional ectopic tachycardia (JET):
• Also called His bundle tachycardia.
• Slightly irregular ventricular rate.
• Ventricular rate faster than atrial rate.
• Treatment as for AVRT but likely to progress to 2nd-​or

3rd-​line drugs.
• Atrioventricular nodal re-​entry tachycardia (AVNRT):
• Accessory pathway is within AV node.
• Probably not distinguishable from other forms of SVT on fetal echo-

cardiography (would most commonly have very short VA interval).

• Treatment would be as for AVRT.

• Multifocal atrial ectopic tachycardia:

• Also termed chaotic atrial rhythm.
• AV synchrony varies from beat to beat.
• Rhythm is fast and irregular.
• Heart is usually structurally normal.
• Insufficient evidence to have clear guidelines for fetal therapy but

postnatal treatment often initially merely increases AV block and

slows ventricular rate rather than restores SR.
• Treatment with digoxin and/​or flecainide seems reasonable.
• May be associated with Costello syndrome.
• May be secondary to cardiomyopathy.
• May resolve in early childhood.

Treatment of SVT
General principles include the following:
• Avoid delivery if possible until SR is restored.
• Observe precautions in list below to avoid cardiac risk to mother
receiving antiarrhythmic drugs (see Boxes 17.2 and 17.3).
• Clarify that there is no maternal history:
• suggestive of arrhythmia or heart muscle disease
• of concomitant incompatible drug treatment.

• Clarify no paternal or other family history suggestive or serious possibly

inheritable cardiac disease.
941

194 Chapter 17   Fetal cardiac rhythm

Box 17.2  Digoxin oral

Check precautions (see ‘General principles’ list).
Do not use if mother has hypokalaemia or a short PR interval.
• Load 500 micrograms then 250 micrograms 8-​hourly.
• Check fetus every 48–​72 hours until regimen stable.
• Omit one dose and reduce to 12-​hourly if symptoms of toxicity
(advise mother about nausea, vomiting, visual disturbance) at
any stage.
• After 5 days:
• check maternal digoxin level (aim to keep in high therapeutic range

6 hours after a dose)

• repeat maternal ECG.

• Reduce dose as above if:

• blood level above therapeutic range at 5 days
• ECG shows changes other than ST/​T effects and longer PR

interval.
• Carefully review compliance before increasing dose if level low or no
ECG changes.
• After 10–​14 days:
• repeat blood potassium, calcium, and drug levels
• repeat ECG
• consider altering therapy if no response or if hydrops develops at

any stage.
• If fetus in SR at 10–​14 days:
• check fetus weekly
• maintain dose for at least 4 weeks of SR or until delivery.

• Before administering any drug perform maternal ECG, looking for:

• conduction disturbance
• pre-​excitation (short PR interval and delta wave)—​contraindicates

digoxin
• QRS duration—​if prolonged, flecainide would be contraindicated
• QT interval—​if prolonged, amiodarone and flecainide

contraindicated
• Before maternal flecainide or any 2nd-​or 3rd-​line drug treatment is
given, obtain a maternal echocardiogram to rule out heart muscle
disease.
• Plasma potassium and calcium (abnormalities predispose to maternal
adverse effects from drug therapy).
• Start treatment if:
• >50% of time in SVT
• cardiac function depressed in SR even if time in SVT <50% (function

hard to assess in SVT)

• SVT <50% of time but detailed frequent follow-​up not possible—​

many will progress to sustained tachycardia and even hydrops

• any evidence of hydrops (fluid in 2 or more body cavities and/​or

oedema). A small stable pericardial effusion is acceptable.

 

Fast abnormal rhythms 195

Box 17.3  Flecainide oral

Check precautions (see ‘General principles’ list).
Do not use if maternal ECG has QRS duration above 100 msec or a
long QT interval.
• Start at 100 mg 8-​hourly.
• Reduce digoxin by one dose a day (flecainide displaces bound digoxin
thereby raising blood concentration).
• Assess fetus every 24–​48 hours.
• After 24–​48 hours, repeat ECG—​a slight prolongation of QRS
duration is likely.
• Instruct mother to stop drug if she experiences palpitations.
• If drug tolerated, at 5 days:
• repeat maternal ECG for QRS duration and QTc
• measure digoxin level if appropriate
• assess fetus.

• If still in tachyarrhythmia and:
• maternal QRS duration remains <150 msec with QTc <0.5
• no fetal or maternal proarrhythmia
• drug level not toxic.

• Continue 100 mg 8-​hourly.

• Cotinine surveillance as above at 3–​5-​day intervals.
• It may take several weeks to establish SR.
• If SR restored, consider reduction of flecainide to 100 mg 12-​hourly.
• If no response/​unacceptable side effects/​fetus deteriorates, change
regimen (E p. 196).

• Have protocol for:
• which drug
• what dose
• how/​when to monitor mother and fetus.

• Drug therapy:
• Transplacental, administered to mother by oral or parenteral route.
• Direct fetal: umbilical vein is preferred, other fetal routes have been

used including intramuscular and intra-​amniotic.

• Oral maternal therapy is generally preferable and is nearly always
appropriate unless:
• maternal gastrointestinal function seriously impaired
• deemed necessary to get high fetal blood drug levels quickly
• adenosine to terminate arrhythmia acutely is indicated (must be into

umbilical vein)
• invasive fetal procedure/​sampling indicated for another reason.

• Practice varies but outpatient management is safe if:

• maternal compliance with medication and understanding of

indications and ability to seek advice are good

• frequent and regular assessment in the clinic is possible for mother
• a regimen no more complex than oral digoxin and/​or flecainide is

effective and problem free.

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196 Chapter 17   Fetal cardiac rhythm

• There are many reported drug regimens for fetal SVT.

• It is important to have a local protocol with a cardiology service taking
responsibility for mother and fetus.
• Flecainide is increasingly replacing digoxin as 1st-​line treatment although
digoxin remains widely used.
• If hydrops develops while on digoxin, then flecainide can be added or
substituted in all types except atrial flutter.
• We recommend not using flecainide alone in atrial flutter because of
the theoretical, and occasionally observed, risk of producing a faster
ventricular rate as the atrial rate slows allowing the degree of AV block
to be less. Digoxin protects against this.
• Maternal admission to a cardiology ward is appropriate if:
• parenteral drug administration is required
• regimens more complex than digoxin and/​or flecainide are used
• maternal cardiac disease of any kind is present
• there is any suggestion of maternal arrhythmia while on treatment.

Fetal antiarrhythmic drug doses

If digoxin and flecainide do not work and delivery is deemed unwise, alter-
native regimens to consider include:
• adenosine into the umbilical vein can be effective but if SR is restored it
is likely to be only temporary.
• the longer-​term choice is between amiodarone and sotalol used either
alone or with digoxin. Amiodarone should only be used if pre-​treatment
maternal ECG has normal QTc and it does not increase beyond 0.5
on treatment. Acceptable maternal ECG changes on sotalol should be
discussed with an adult cardiologist.
• Standard regimens are not widely agreed for these drugs and must be
supervised by a cardiologist.
Prognosis of SVT
• Untreated, cases of SVT can remain well for weeks but progression to
hydrops and death is not rare and cannot be predicted from type of
SVT or heart rate.
• Treatment restores SR in 80% or more if not hydropic.
• Non-​responders are more likely to be:
• hydropic at commencement of treatment (approximately 60% even-

tually achieve sinus rhythm)

• long VA rhythms.

• Hydrops is the main risk factor for death and, in spite of treatment,
mortality is:
• 50% if remains in SVT
• 10% if SR restored.

• Sudden fetal death can occur while on and even when responding to
treatment.
• Survivors who were hydropic have an increased risk of
neurodevelopmental problems. Several factors may be contributory:
• Low cardiac output in utero.
• Prematurity.
• Coexistent cerebral malformations.
• Associated syndromes.
 

Fast abnormal rhythms 197

Postnatal management
This will be influenced by a number of factors but drug treatment does not
need to be continued postnatally if:
• only on 1 drug and
• SR established at least 4 weeks before delivery
• rhythm was AVRT or atrial flutter
• heart is structurally and functionally normal
• all traces of hydrops resolved.
Follow-​up may only need to be for 6 months but will be influenced by:
• any symptomatic recurrences in early infancy
• presence of pre-​excited ECG (risk of arrhythmias persists).
• need for neurodevelopmental surveillance if hydropic in utero
• existence of structural/​functional cardiac abnormalities
• coexisting non-​cardiac conditions.
There is a small chance of SVT recurrence in later childhood but unless ECG
is pre-​excited there is no need to follow up because of this. Families should
be told to seek medical advice if possible symptoms of SVT occur.
Ventricular tachycardia (VT)
This is much rarer than SVT; some large series of fetal tachycardia have no
identified cases.
Diagnosis by echocardiography
• Usually loss of AV synchrony (retrograde VA conduction uncommon).
• Ventricular rate usually faster than atrial.
• Ventricular rate can be <200/​min.
Associations
• As for SVT except pre-​excitation on postnatal ECG not a feature unless
patient has cardiac tumour.
• Congenital long QT syndromes (LQTS) which may show:
• definite or suggestive family history (most cases are autosomal dom-

inant but recessive inheritance and sporadic cases occur)

• bradycardia when in SR
• 2nd-​or 3rd-​degree heart block in utero.

Management
• If congenital LQTS is suspected, discuss with family:
• ECG on 1st-​degree relatives irrespective of symptoms (penetrance

varies)
• Gene testing any relative with abnormal ECG

• Treatment of VT not always needed but probably indicated if:

• sustained episodes
• rate >180/​min (idioventricular rhythm with rates below this well

tolerated in fetus and newborn and often resolve spontaneously)

• myocardial function depressed
• ascending aortic Doppler velocity is markedly reduced in VT
• LQTS strongly suspected
• intracardiac tumour
• haemodynamically important structural heart disease.
981

198 Chapter 17   Fetal cardiac rhythm

• Treatment:
• Check maternal electrolytes including calcium and magnesium.
• Use maternal replacement therapy if necessary, especially if LQTS

suspected.
• Drugs, see below.
• Delivery by caesarean section in fetus mature enough in view of po-

tential problems with drug therapy.

• Transplacental drug regimens:
• Observe the standard precautions as for SVT.
• Use standard maternal oral doses and monitoring.
• Beta blockers are postnatal treatment of choice for LQTS. Potential

risk is further slowing of sinus rate which may facilitate onset of VT.
Extent to which propranolol crosses the placenta is unclear.
• Amiodarone and flecainide contraindicated in LQTS but may be used

for fetal VT from other causes.

Prognosis
• Related to the cause and associations.
• If an underlying cause or association is not found, it may have a
self-​limiting course.
• If drug treatment given, this may not need to be continued after the
newborn period depending on the cause.
• Data from large numbers of cases not available.
 

Fast abnormal rhythms 199

20

200 Chapter 17   Fetal cardiac rhythm

Slow abnormal rhythms

Rhythm definition and AV timing are determined by methods already
described.
Sinus bradycardia
• Rate <110/​min.
• Fetal distress must be excluded.
• If transient can be normal requiring no action (E p. 186).
• Shows normal 1:1 AV synchrony.
• Rate varies.
• May be a sign of LQTS:
• Take detailed family history.
• Consider parental ECGs.

• Abnormality of cardiac structure or function uncommon but must be

ruled out.
• Consider maternal hypothyroidism or drug ingestion.
• Warrants close follow-​up for:
• monitoring fetal well-​being
• other features of LQTS such as AV block or VT
• postnatal ECG.

Atrioventricular block
AV block is also termed heart block. It is categorized by the ECG relation-
ship between P waves and QRS complexes:
First-​degree heart block
• The PR interval is longer than normal. This causes a prolonged AV time
on fetal echo, however assessed. Note:
• To identify this requires considerable skill.
• It is unknown whether this can be a normal variant, as it can

postnatally.
• It can be transient in maternal collagen vascular diseases.
• It may herald progression to higher degrees of block.

Second-​degree heart block
• Has a number of patterns in all of which atrial signals are not always
followed by ventricular ones (Fig. 17.8):
• It is not clear if this can be normal in the fetus (one form of 2nd-​

degree block is normal in sleeping children—​the Wenckebach

phenomenon).
• Is associated with LQTS.
• Has a weak association with structural heart lesions.
• May progress to complete AV block.
• Is reported reversible by treatment in some circumstances

(E p. 202).
• Must be distinguished from blocked atrial ectopics.

Third-​degree (complete) heart block (CHB)

• Shows no relationship between the timing of atrial and ventricular
activity (Fig. 17.9).
 

Slow abnormal rhythms 201

Fig. 17.8  M-​mode of 2:1 2nd-​degree heart block showing regular atrial contractions
(A) with every other one being conducted to ventricles (V) giving a rate of 73/​min.

Fig. 17.9  M-​mode of complete heart block, there is no consistent relationship

between the regular atrial (A) contractions and the ventricular (V) ones which have
a rate of 56/​min.
20

202 Chapter 17   Fetal cardiac rhythm

Causes and associations of CHB

• Structurally abnormal heart:
• Often complex (especially congenitally corrected TGA).
• When found in left atrial isomerism (E p. 158), there are usually

structural heart disease and non-​compacted left ventricular cardio-

myopathy in addition.
• Structurally normal heart:
• There is a strong (>80%) association with maternal anti-​SSA/​Ro

and anti-​SSB/​La antibodies whether or not the mother has clinical

manifestations of Sjögren syndrome, systemic lupus erythematosus,
or rheumatoid arthritis. See Box 17.4.
• If clinically well, an antibody-​positive woman may subsequently de-

velop one of these diseases.

• If a woman has one of these antibodies there is a 2–​5% risk of

fetal CHB.
• If a previous pregnancy was affected by antibody-​induced CHB, the

risk is up to 25% in subsequent pregnancies.

• Lesser degrees of heart block may be detected in such pregnancies

which then progress to CHB (although 1st-​degree heart block may

resolve).
• As well as heart block, maternal antibodies may produce cardiomy-

opathy in the fetus (E Chapter 24) and in childhood.

• The fetal cardiomyopathy can be generalized or focal.
• Of those without maternal collagen vascular disease or anti-​SSA or

anti-​SSB antibodies, many will have no cause identified but some will
turn out to have a LQTS or a cardiomyopathy.
Treatment of CHB without structural heart disease
• Survival after fetal cardiac pacing has yet to be achieved.
• There are reports that maternal steroid therapy can cause improvement
in the degree of AV block, although this is not reported in all series.
• There is also evidence that treatment of CHB with steroids improves
outcome even if the fetus remains in CHB, presumably as myocarditis
independent of rhythm may be of functional significance.
• Thus the use of steroids when there is 2nd-​or 3rd-​degree heart block
in the setting of maternal antibodies is the practice in some centres.
• This approach is not universal as results vary, equivalent outcomes are
described with other regimens and steroids have risks for fetus and
mother.
• Fetal heart rate can be increased by maternal administration of
sympathomimetics (commonly terbutaline) and some groups use this
approach if fetal heart rate is <55/​min although clear evidence of
improved outcome is again debated.
• Some groups reserve steroids and sympathomimetics for fetuses that
show evidence of hydrops or severe AV valve regurgitation.
• A management algorithm is given in Box 17.4.
 

Slow abnormal rhythms 203

Box 17.4  Fetal heart block associated with maternal

antibody
Confirm normal heart structure
Normal fetal health and cardiac function
• 1st-​degree AV block—​monitor every 7 days, weeks 18 to 28.
• 2nd degree AV block—​consider maternal dexamethasone 4 mg daily.
Continue if block regresses or does not progress, stop if 3rd-​degree
AV block develops.
• 3rd degree AV block—​monitor every 1 to 2 weeks.
3rd-​degree AV block with impaired systolic function/​hydrops
• Consider maternal sympathomimetic if rate <55/​min.
• Consider maternal dexamethasone.
• Consider delivery for pacing if rate <55/​min and if fetal maturity
adequate (? >34 weeks).

Prognosis for CHB
• With structural CHD, fetal death occurs in >50% of cases and
neonatal/​infant outlook is poor.
• Without structural CHD:
• Hydrops carries a high mortality.
• Heart rate has not consistently aided prediction of outcome.
• Falling heart rate is similarly hard to interpret.

• Neonatal pacemaker insertion is likely if:

• fetal heart rate <50/​min
• hydrops is present
• fetus has LQTS.
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204 Chapter 17   Fetal cardiac rhythm

Irregular rhythms
These can be fast, slow, or normal rate. The following need to be
considered when an irregular fetal heart rhythm is detected. Fuller details
of these conditions are discussed in other topics in this chapter.
• Atrial ectopics (Fig. 17.4):
• The rate will be slower the higher the number of blocked ectopics.

• Ventricular ectopics (Fig. 17.10):

• Much rarer than atrial.

• Brief physiological sinus bradycardia:

• Rate change is often abrupt over less than 5 cardiac cycles.

• Atrial flutter:
• More commonly is regular but AV conduction ratio may change.

• Chaotic atrial rhythm (multifocal atrial tachycardia) and junctional

ectopic tachycardia:
• Are rare forms of SVT.
• The most noticeable feature is tachycardia.
• Rhythm is also irregular although this may not be recognized without

detailed analysis.
• Ventricular tachycardia:
• Rare in the fetus.
• Usually slightly irregular although this may not be recognized without

detailed analysis.

Fig. 17.10  M-​mode of SR with atrial contractions (A) preceding ventricular ones

(V) then a ventricular ectopic (v) coming prematurely and not preceded by A. There
is a compensatory pause before normal AV synchrony is restored.
 

Chapter 18 205

Cardiac function

Assessment of cardiac function  206

206

206 Chapter 18   Cardiac function

Assessment of cardiac function

Introduction
Fetal echocardiography is used increasingly in the assessment of cardiovas-
cular well-​being. Objective assessment of cardiac function can be difficult
and subjective observation is often helpful, even if unquantified.
• This chapter will cover simple, reproducible methods to quantify
function suitable for use in busy clinical practices.
• Sophisticated and advanced techniques, including the use of speckle tracking,
tissue Doppler imaging, 4D, and STIC are beyond the scope of this chapter.
• The purpose of the assessments discussed here is to identify the
stressed or failing fetal heart at an early stage and allow monitoring of
serial changes
• Cardiac function, if severely compromised, will be associated with
general markers of ill health including:
• pericardial effusion larger than physiological (E Chapter 6)
• hydrops
• reduced movement.

• Monitoring of heart function is helpful in the management of pregnancies with:

• fetal hydrops, for whatever cause (E Chapter 22)
• twin–​twin transfusion syndrome (E Chapter 23)
• fetal anaemia (E Chapter 24)
• evolving cardiomyopathies (E Chapter 19)
• fetal arrhythmias (E Chapter 17)
• severe intrauterine growth restriction
• maternal diabetes, especially when control is suboptimal.

The ductus venosus

• The ductus venosus (venous duct) is particularly accessible for
interrogation and useful in the assessment of heart function.
• It connects the umbilical vein to the IVC:
• The DV is a narrow funnel-​shaped vessel.
• Thus blood velocity increases through the vessel.
• It carries more highly oxygenated blood which does not then pass

through the liver.
• DV blood is preferentially directed by the Eustachian valve in the RA

across the foramen ovale to the left atrium.

• Then to the LV to supply oxygen rich blood to the coronary circula-

tion and brain.
• The DV can be visualized on 2D imaging and is then confirmed with
colour Doppler as flow is accelerating through the vessel.
• PW Doppler can then be used to analyse the wave form.
• Flow should always be anterograde towards the heart, even in atrial
systole (Fig. 18.1).
• A waves, occurring with RA contraction, will be identifiable as a trough
but this should not reach the baseline or be reversed.
• An abnormal wave form in the DV is similar to the normal wave form in
the hepatic vessels emphasizing the importance of defining the anatomy
with a good 2D image before using colour or PW Doppler.
• The wave form cannot be interpreted if the fetus is breathing or rhythm
is not SR.
 

Assessment of cardiac function 207

• Retrograde flow in atrial systole is never normal and may be due to

abnormalities of:
• cardiac anatomy
• cardiac function
• venous anatomy
• placental resistance.

(a)

(b)

Fig. 18.1  Ductus venosus PW Doppler signal with flow towards heart being away
from transducer. (a) Normal showing effect of atrial contraction on reduction
of velocity. (b) Abnormal with reversal of a wave (in this case due to severe
cardiomyopathy).
208

208 Chapter 18   Cardiac function

General methods
Heart size
• The fetal heart should occupy ⅓ of the chest.
• Measuring the circumference of the heart on a cross-​sectional image
of the fetal chest and comparing it to the chest circumference gives a
cardiothoracic ratio (C:T ratio):
• Normal value is <0.5.

• These measurements can be used to calculate a heart:chest area ratio:

• Normal value is 0.2–​0.35 (Fig. 18.2).

• The following points are relevant:

• A symmetrical section of the chest must be obtained.
• Changes over time are more important than a single measurement.

• If only one heart chamber is enlarged, interpretation of changes in size

depends on the aetiology and may not necessarily reflect global cardiac
function or status.
• Pericardial fluid can be included as long as this is clearly specified, and
depth of fluid documented.
• A small heart is also associated with a guarded prognosis.
Contractility
• Often a subjective impression will suffice but accurate measurements
can be obtained using 4-​chamber, long-​or short-​axis views in 2D or
M-​mode (Fig. 6.4).
• Ejection fraction or fractional shortening can then be calculated and
repeated serial measurements used to monitor changes.
Atrioventricular valve regurgitation
• Physiological tricuspid valve regurgitation is common, especially with
optimum scanning conditions and is a normal variant.
• Mitral regurgitation is not considered a normal finding.
• Quantifying TR may be difficult but incudes:
• duration of TR jet within the cardiac cycle
• size of jet, length (should not extend more than ⅓ into RA), and

breadth
• may be described as trivial/​physiological, mild, moderate, or severe.

• Sequential reduction in the velocity of AV valve regurgitation suggests

worsening ventricular function.
Atrioventricular valve inflow patterns
• Disturbance to diastolic function will be reflected by changes to inflow
patterns, E:A wave morphology.
• In early gestation, the E (passive) wave is smaller than the A (atrial
contraction) wave as fetal myocardium is less compliant than postnatally
(Fig. 6.4).
• As gestation advances, compliance increases and the size of the E wave
increases to be equal to the size A wave by term.
• Monophasic inflow (fusion of E and a waves) suggests significant
diastolic dysfunction.
• Diastolic dysfunction, as seen in twin–​twin transfusion syndrome, may
be an early warning sign.
 

Assessment of cardiac function 209

Fig. 18.2  4-​chamber view with measurement of heart (1) and chest (2) ellipse

diameters (D1, D2) and circumference (C) with calculation of area (A) of each
allowing ratios for both to be determined.

Myocardial performance score (Tei Index)

• This is a Doppler-​derived score which is obtained using PW Doppler
assessment of inflow and outflow blood velocity signals from both the
LV and (slightly harder technically) the RV.
• This score reflects global myocardial performance by assessing duration
of flow through the AV valves and outflow tracts:
• Is not altered by heart rate.
• Remains constant throughout gestation.
• Reflects both systolic and diastolic function.
• Normal value should be around 0.36 (0.28–​0.44).
• An increased score suggests a reduction in function.

• It requires plenty of practice to obtain consistent and reliable results.

• It can be time-​consuming.
• For detailed information search literature.
Cardiovascular profile score
• The cardiovascular profile score can be used for serial assessment and
to help with prediction of outcome.
• Changes in the cardiovascular profile score may occur before the

onset of terminal decompensation.

• Details of the score are given in Table 18.1:
• Lower scores are associated with worse outcomes.
• Falling scores are particularly worrying.
021

210 Chapter 18   Cardiac function

Table 18.1  Heart failure score—​cardiovascular profile score*

2 points 1 point 0 points
Hydrops None Ascites or pleural or Skin oedema
pericardial effusion
Doppler
• umbilical vein Normal Normal Pulsatile
• ductus venosus Normal Any retrograde signal –​
in atrial systole
CTR (heart/​ 0.2–​0.35 0.35–​0.50 >0.5 or <0.2
chest area)
Function No AV regurgitation Pansystolic TR Pansystolic MR
RV and LV FS >0.28 RV or LV FS <0.28 Monophasic AV
valve Doppler
Biphasic AV valve –​ –​
Doppler
Umbilical artery Normal Absent end-​diastolic Reversed end
Doppler flow diastolic flow

CTR, cardiothoracic ratio; FC, fractional shortening.

*Adapted from Huhta JC (2005) Fetal congestive heart failure, Seminars in Fetal & Neonatal
Medicine 10;542–​52 with permission from Elsevier.
 

Chapter 19 211

Heart muscle disease

Introduction  212
Types of cardiomyopathy  214
Assessment  218
Treatment  218
21

212 Chapter 19   Heart muscle disease

Introduction
• Heart muscle disease presenting in the fetus is rare.
• The distinction between myocarditis and non-​inflammatory
cardiomyopathy is not clear cut and the term cardiomyopathy tends to
be used for both categories.
• Primary cardiomyopathy:
• is often genetically determined although the gene is not always

identified
• may be associated with structural CHD insufficiently severe to impair

heart function.
• Secondary heart muscle disease:
• can be the consequence of fetal illness (e.g. twin–​twin transfusion

syndrome)
• can be the result of maternal disease (e.g. maternal infection or

antibodies)
• is seen in severe structural lesions (e.g. PA, IVS, severe AS) and is not

discussed further here.
• In the following discussion, it is assumed that cardiac anatomy is normal.
• Fetal cardiomyopathy:
• Can affect either or both ventricles.
• Tends to progress during pregnancy.
• May prevent the fetus from reaching a viable gestation.

• In the following descriptions, it is assumed that cardiac anatomy is

normal.
• The commonest cause of fetal cardiomyopathy is idiopathic.
• Prognosis depends on aetiology but is commonly poor.
 

Introduction 213
421

214 Chapter 19   Heart muscle disease

Types of cardiomyopathy
Cardiomyopathies can be classified in as follows
• Hypertrophic
• Dilated
• Restrictive
• Miscellaneous.
Hypertrophic cardiomyopathy (HCM)
• Recognized by the presence of abnormal hypertrophy of either/​both
ventricles and/​or ventricular septum usually resulting in cardiomegaly
(Fig. 19.1).
• Tends to progress during the pregnancy such that function may be
impaired and hydrops may develop.
Causes include:
• Autosomal dominant conditions.
• A small proportion of new mutations.
• In about 50% of familial cases a gene may be identifiable.
• If a parent has classic familial autosomal dominant HCM, fetal scanning is
not recommended
• The phenotype very rarely expresses itself prenatally or in the first

few post-​natal years
• thus cannot be excluded in the fetus

Other causes include:

• Maternal diabetes:
• Reflects fetal hyperinsulinism in 3rd trimester.
• May affect ventricular septum and RV more than LV (Fig. 24.3).
• Not considered as an indication to rescan in later pregnancy.
• Rarely clinically important (E Chapter 24).
• More likely if control is suboptimal.
• Resolves during the first year of postnatal life.

• Recipient twin in twin–​twin transfusion syndrome (E Chapter 23).

• Noonan’s syndrome:
• In approximately 20%.
• Most commonly affects the ventricular septum.
• Pulmonary valve abnormalities may develop in the 3rd trimester.
• May become haemodynamically significant but rarely in the fetus.

• Some metabolic and storage disorders:

• Specialist knowledge of diagnostic tests and their application in preg-

nancy should be sought.

Dilated cardiomyopathy (DCM)
• Dilatation of one or both ventricles, often with thin heart muscle,
usually with cardiomegaly (Fig. 19.2):
• Usually with severe AV valve regurgitation.
• Usually with poor systolic function with the risk for hydrops.
 

Types of cardiomyopathy 215

(a)

(b)

Fig. 19.1  (a) 4-​chamber view showing generalized hypertrophy. Recipient in twin–​

twin transfusion syndrome. (b) 4-​chamber view in ventricular diastole showing gross
generalized hypertrophy. No cause identified.

Causes include:
• Familial (DCM) which may be autosomal dominant.
• Some metabolic disorders.
• Sustained fetal arrhythmias, especially tachycardias.
• Fetal anaemia after initial hyperdynamic phase.
• Fetal AV malformation after initial hyperdynamic phase.
• Fetal infection in particular parvovirus which can cause:
• anaemia
• myocarditis.
621

216 Chapter 19   Heart muscle disease

Fig. 19.2  4-​chamber view showing grossly enlarged heart in ventricular systole.

DCM cause unidentified.

Restrictive cardiomyopathy
• Very rare in the fetus, usually with a genetic cause so that the recurrence
risk may be high.
• Recognized on imaging by enlargement of the atria with preserved
ventricular systolic function (Fig. 19.3).
• Usually poorly tolerated with onset of hydrops in the 2nd trimester.
Miscellaneous
Some hearts fit into more than one of the above-​mentioned categories ana-
tomically and haemodynamically and may evolve from one to another over
time. Diseases to consider with unusual cardiomyopathies include:
• maternal anti-​Ro antibodies:
• myocardium may be echogenic with areas resembling endocardial

fibroelastosis (Fig. 19.4).
• viral causes which may be transient
• aneuploidies or abnormal microarray results
• left atrial isomerism (E Chapter 14) is associated with non-​compaction
which is otherwise rare in the fetus.
 

Types of cardiomyopathy 217

Fig. 19.3  4-​chamber view in ventricular systole in RCM showing atria larger than
ventricles (‘ice cream cone’).

Fig. 19.4  4-​chamber view showing echobright areas in IVS and possibly LV posterior
wall. Presumed maternal systemic lupus erythematosus.
821

218 Chapter 19   Heart muscle disease

Assessment
Assessment of heart function is discussed in E Chapter 18. Heart muscle
thickness can be measured using:
• 2D imaging
• M-​mode
• short-​axis, long-​axis, or 4-​chamber views
Normal ventricular and septal myocardial thickness should not exceed 5mm
in the last trimester.

Treatment
• Treatment involves correcting the underlying cause if identified and if
possible.
• Drug treatment is unproven except in the cases of fetal tachycardias
although there is some evidence that digoxin may be of value even in
sinus rhythm.
• Steroid medication is used by some in maternal antibody-​related heart
muscle disease if systolic function is poor or AV valve regurgitation is
severe as well as for heart block (E Chapter 24).
 

Chapter 20 219

Cardiac tumours

Introduction  220
Echogenic foci  222
Rhabdomyoma  224
Teratoma  225
Fibroma  226
Haemangioma  226
Myxoma  226
20

220 Chapter 20   Cardiac tumours

Introduction
• Cardiac tumours are rare.
• Single or multiple tumours can exist and detailed assessment of number,
size, and site is essential as a reference point for subsequent evaluation.
• An assessment of the echogenicity is appropriate (homogeneous/​
heterogeneous/​cystic).
• Identification requires subsequent monitoring for:
• fetal well-​being
• growth of the tumour (s)
• planning management of delivery and neonatal period.

• It is important to consider non-​cardiac associations.

• Most tumours increase in size during pregnancy and are rarely identified
before 20 weeks’ gestation.
• Some present as an incidental finding at a growth scan; others are
discovered during a more detailed assessment of:
• cardiac arrhythmia
• pericardial effusion
• hydrops.

• Tumours can originate from any part of the heart including:

• myocardium
• pericardium
• endocardium.

• Most are histologically benign and prognosis is dependent on the

haemodynamic impact of the tumour and on any associated non-​cardiac
problems.
• Echocardiography can define most of the useful information although
in some the differential diagnosis is difficult and further investigation by
MRI (cardiac or cranial) may be used if doubt exists.
• Haemodynamic effects depend on the position, number, and size of
tumours and include:
• interference with myocardial function
• obstruction to forward flow through a valve causing hypoplasia of

affected chambers or vessels

• valvar regurgitation
• arrhythmias including benign atrial ectopic beats, SVT, and ventricular

arrhythmias causing sudden intrauterine death.

• Serial assessment of cardiac function and rhythm is appropriate once
viability is reached.
• For a very few cases, early delivery and possible neonatal surgery may
be required.
• Sometimes cardiac tumours are the initial manifestation of a genetic
syndrome with significant implications for wider issues and the value
of parental/​sibling assessment and of genetic testing needs to be
considered.
• Echogenic foci (‘golf balls’) are recognized normal variants but
occasionally cannot be differentiated from pathological tumours
(E p. 222).
 

Introduction 221

• Although all tumours are rare, the following are recognized in utero in
order of decreasing frequency:
• rhabdomyoma
• teratoma
• fibroma
• haemangioma (exceedingly rare)
• myxoma (exceedingly rare).
2

222 Chapter 20   Cardiac tumours

Echogenic foci
• Often termed ‘golf balls’ (Fig. 20.1).
• Are a normal variant.
• Have no haemodynamic significance.
• Echodense homogeneous circular regions most often in the papillary
muscles of the left ventricle.
• Can be seen in right ventricle.
• Unlike pathological tumours they are rare in the atria.
• Up to 5 mm in diameter.
• Pathology poorly described because of natural history, are thought to
contain calcium.
• May be single, less commonly multiple.
• Most commonly detected at anomaly scan.
• Usually gone or much smaller by term in contrast to pathological
tumours.
• If confidently diagnosed do not need further investigation or follow-​up
in pregnancy or afterwards.
• If doubt exists about their nature, they should be monitored until
innocence is assured or a tumour of a pathological nature is apparent.
• Association with chromosomal abnormality is unclear but when first
detected a careful search for other ‘soft markers’ is advised although
formal screening test results are more important.
 

Echogenic foci 223

(a)

(b)

(c)

Fig. 20.1  4-​chamber view showing single echodense region in LV cavity—​a ‘golf

ball’, (a) plain, (b) annotated. (c) 4-​chamber view showing echodense lesions in both
LV and RV, multiple ‘golf balls’.
24

224 Chapter 20   Cardiac tumours

Rhabdomyoma
• The commonest fetal cardiac tumour, representing around 80% of
tumours seen prenatally.
• Histologically they are a form of hamartoma—​an overgrowth of tissue
normally present at the site of origin.
• On ultrasound they are well-​defined, homogeneous echogenic masses in
the atrial or ventricular wall or in the ventricular septum.
• Usually become apparent between 20 and 30 weeks’ gestation,
occasionally earlier.
• May initially appear as a single tumour but in most cases, multiple
tumours become identifiable in time (Fig. 20.2).
• Although benign they grow during pregnancy, probably under the
influence of maternal hormones and, depending on their position in the
heart, can have significant haemodynamic effects.
• The natural history is for the tumour to shrink in size postnatally and
thus surgical intervention is rarely indicated.
• Around 80% of fetuses with multiple rhabdomyomata will have
tuberose sclerosis, a syndrome which:
• is a dominantly inherited disorder but usually appears as a new mutation
• TSC1 (25%) or TSC2 (65%) gene mutations are detected in 90% of

postnatal cases of TS with 10% having no known mutation

• genotype–​phenotype correlations are not yet well enough delineated

to predict prognosis for use in prenatal counselling

• is variable in terms of its impact on quality of life
• may be associated with intracerebral tumours, some of which may

be detectable prenatally with MRI

• is not excluded by the absence of cerebral tumours as these may not

develop until later in life

• renal tumours are unlikely to be detected in the fetus

Fig. 20.2  4-​chamber view showing multiple intracardiac tumours (IVS, LV, AV valve).
Rhabdomyomata.
 

Teratoma 225

Teratoma
• Teratomas are usually single, arise from the pericardium, and are often
associated with a pericardial effusion (Fig. 20.3).
• Very rarely they are intracardiac.
• In contrast to rhabdomyomas, teratomas are of mixed echogenicity with
cystic areas as well as areas of calcification.
• Usually identified at around 20 weeks’ gestation and grow through
pregnancy.
• By compromising systemic venous return to the heart and blood
flow through the heart, teratomas are more likely to cause significant
haemodynamic disturbance and may result in chamber hypoplasia.
• Drainage of a large pericardial effusion may be indicated if tamponade is
likely and to prevent progression of hydrops.
• Recurrence of effusion is common and resection of tumour has been
attempted in utero.
• Postnatal surgery is usually successful depending on gestation, cardiac
growth, and well-​being at delivery.

Fig. 20.3  4-​chamber view showing very large teratoma posterior to LA resulting in a

massive pericardial effusion and diminutive left heart.
26

226 Chapter 20   Cardiac tumours

Fibroma
• Benign and usually solitary.
• Develop in the ventricular wall myocardium or septum.
• May be of uniform echogenicity and thus hard to distinguish from
rhabdomyoma.
• Some degenerate and thus appear partly cystic and with areas of
calcification.
• Postnatally they tend to continue to grow and require surgical resection,
especially if symptomatic or associated with arrhythmias.

Haemangioma
• Extremely rare in the fetus.
• Usually of mixed echogenicity and although vascular, the vessels are too
small to define with colour Doppler.
• Tend to arise from the base of the heart adjacent to the right atrium and
may extend into the right atrium.
• May be associated with a pericardial effusion and hydrops.
• Usually successfully surgically removed postnatally.

Myxoma
• A benign tumour which is extremely rare in the fetus.
• There can be a family history of cardiac myxoma (including an
association with Carney syndrome).
• Usually echogenic and pedunculated and thus mobile and may move
across valves.
 

Chapter 21 227

Nuchal translucency and

the heart

Introduction  228
The nuchal scan  228
The nuchal scan and the heart  229
Management  230
28

228 Chapter 21   Nuchal translucency and the heart

Introduction
• Nuchal screening is performed between 11+0 and 13+6 weeks and
offered routinely to all pregnant women.
• The primary objective is to identify fetuses at increased risk for a
chromosomal anomaly:
• Used in combination with maternal serum biochemical markers.

• Increased measurements are associated with increased risk of

chromosomal abnormality and of major structural anomalies.
• Fetuses with increased nuchal translucency (NT) have an increased risk
for CHD:
• Even if the karyotype or non-​invasive prenatal testing result (E

Chapter 8) are normal.

• This risk increases with increasing NT measurements for all types
of CHD.
• Evidence of cardiac dysfunction might alert to the presence of a
structural anomaly:
• TR
• Abnormal waveform in the ductus venosus (E Chapter 18).

The nuchal scan
• The nuchal area is measured to the nearest 1/​10th mm using
standardized methods:
• Readily achievable by experienced operators with a high degree of

reproducibility.
• Some major structural fetal anomalies, including cardiac anomalies, may
also be identified during this scan
 

The nuchal scan and the heart 229

The nuchal scan and the heart

• The mechanism of increased NT with cardiac anomalies is unclear.
• Risk of CHD and NT centiles are listed in Table 21.1.
• Risk of CHD with NT measurements are listed in Table 21.2.
• Not all fetuses with CHD have increased nuchal measurements.
• Most fetuses with increased NT and a normal karyotype have normal
hearts.
• Up to 50% of fetuses with major structural CHD have increased NT.
• The value of NT measurement in screening for CHD is unproven.

Table 21.1  NT centile and approximate risk of CHD with normal

karyotype
Nuchal centile Risk of CHD (%)
Median–​95th <1
95th–​99th 1.8
>99th 3.5–​12.6

Table 21.2  NT measurement and approximate risk of CHD with normal

karyotype
Nuchal measurement (mm) Risk of CHD (%)
3.5–​4.4 3.5
4.5–​5.4 6.4
5.5+ 12.7
230

230 Chapter 21   Nuchal translucency and the heart

Management
• An increased NT of >3.5mm is an indication for detailed
echocardiography; we recommend:
• an early assessment at 14–​16 weeks
• repeated at 20–​22 weeks even if earlier scan normal.

• Fetuses with increased NT, normal karyotype, normal anomaly, and

cardiac scans usually have a good outcome.
 

Chapter 22 231

Hydrops and the heart

Introduction  232
Pathophysiology of hydrops  236
Aetiology  237
Assessment and monitoring  238
Management  239
23

232 Chapter 22   Hydrops and the heart

Introduction
Hydrops fetalis refers to the pathological condition where fluid collects
in 2 or more body cavities; it represents excessive accumulation of inter-
stitial fluid, initially in the serous spaces (pericardial, pleural, and peri-
toneal cavities, see Figs 22.1, 22.2, and 22.3) but in time may progress to
generalized skin oedema (Fig.  22.4). It is the common pathway for many
different disease processes.
Hydrops is the consequence of fetal cardiovascular decompensation;
the cause may be cardiac or non-​cardiac in origin. Its onset represents car-
diac failure for whatever reason and it is associated with inadequate tissue
­perfusion. Fetal hydrops is associated with a high morbidity and mortality
pre-​and postnatally.
• Predicting survival remains a challenge.
• Antenatal treatment is only possible for a few specific causes.
• Echocardiography has an important role in:
• identifying a cause
• quantifying haemodynamic involvement
• monitoring progression
• monitoring response to treatment when relevant

• The effect of hydrops on cerebral perfusion remains undefined.

Fig. 22.1  Oblique long-​axis view showing bilateral pleural effusions (PL EFF).

 

Introduction 233

Fig. 22.2  4-​chamber view showing anterior pericardial effusion.

Fig. 22.3  Short-​axis view of abdomen showing bowel surrounded by ascitic fluid.

234

234 Chapter 22   Hydrops and the heart

Fig. 22.4  Coronal view of skull showing large amount of oedema (SO) between
bone (SB) and skin.
 

Introduction 235
236

236 Chapter 22   Hydrops and the heart

Pathophysiology of hydrops
• The RV handles ⅔ of combined cardiac output in the normal fetus.
• The infrastructure of the RV is such that, in comparison to the LV, it:
• is more compliant
• generates less force
• is less resistant to increases in cardiac load
• is more susceptible to failure.

• Small increases in systemic venous pressures results in:

• increased extravascular shift
• reduction in circulating volume
• reduced combined cardiac output
• development of hydrops.

• If progressive this causes:

• low tissue perfusion
• progressive acidosis
• fetal death.

• This series of complex interactions can be triggered by many different

pathologies producing the final expression of hydrops.
• Cardiac output is determined by heart rate and stroke volume.
• There is little scope for increased heart rate in the fetus.
• Stroke volume is determined by:
• preload (ventricular myocardial stretching in diastole)
• ventricular myocardial performance
• afterload.

Preload
Influenced by various factors including:
• anaemia
• TTTS
• systemic AV malformations
• pericardial effusion/​other intrathoracic space-​occupying lesion
• atrial dysfunction—​impaired in atrial arrhythmias.
Ventricular myocardial performance
• Dysfunction can be:
• diastolic—​inability to relax normally thus reducing ventricular

filling, or
• systolic—​inability to pump normally thus reducing volume ejected.

May be caused by:
• Heart muscle disease:
• cardiomyopathies
• myocarditis.

• Some structural cardiac lesions:

• Ebstein’s anomaly
• aortic stenosis.

Afterload
Determined by systemic vascular resistance which increases in:
• hypertension, as in the recipient twin in TTTS
• placental dysfunction
 

Aetiology 237

Aetiology
• In many cases the aetiology of hydrops is never determined.
• Viral infections are a common cause.
• Many different fetal anomalies may be responsible; some of the more
common causes are summarized in Table 22.1.

Table 22.1  Causes of fetal hydrops

Prenatal
treatment
possible
Structural CHD Ebstein’s anomaly +/​−
Severe/​critical aortic stenosis +/​−
Complete AVSD −
Premature closure of ductus arteriosus +/​−
Agenesis of the ductus venosus −
Arrhythmias Tachycardia (SVT, flutter) +
Bradycardia (complete heart block) +/​−
Cardiomyopathies See E Chapter 19 +/​−
Myocarditis Including with maternal anti-​Ro antibodies +/​−
Cardiac tumours See E Chapter 20 +/​−
Chromosomal Trisomy 21 −
Turner syndrome −
Triploidy −
Rare variants −
Twin pregnancies Recipient or less often donor in TTTS +
(E Chapter 23)
Pump twin in TRAP sequence (E Chapter 23) +
Syndromes Noonan syndrome −
Non-​cardiac Pleural effusions +/​−
structural Congenital diaphragmatic hernia +/​−
anomalies
Cystadenomatous malformations +/​−
Teratoma +/​−
Arteriovenous fistulae +/​−
Placental chorioangioma +/​−
Fetal anaemia Any cause +/​−
Infection Parvovirus (anaemia and myocarditis) +
Cytomegalovirus −
Adenovirus −
Other −
Maternal causes Severe anaemia +
Unidentified Commonest group −
238

238 Chapter 22   Hydrops and the heart

Assessment and monitoring

In the presence of hydrops and as part of the search for an underlying
cause, detailed examination should include the following:
• General assessment of:
• fetal and placental anatomy
• severity of hydrops
• fetal biophysical profile.

• From the cardiac perspective, the examination should involve

assessment of:
• cardiac anatomy
• cardiac size (C:T ratio, see Fig. 18.2)
• function as discussed in E Chapter 18
• rhythm (E Chapter 17).

• Assessment of the cardiovascular profile score (E Chapter 18):

• more useful than measuring fluid volumes
• predictive value depends on the underlying cause of hydrops.
 

Management 239

Management
• Treatment of underlying pathology may be possible, as in:
• fetal anaemia
• fetal tachycardia (response to treatment takes longer in the

hydropic fetus)
• TTTS.

• In the majority of cases management involves:

• serial monitoring
• use of steroids in anticipation of premature delivery
• consideration of early delivery if deterioration occurs at a viable

gestation.
• Use of specific drugs to try to improve the fetal well-​being is subject for
debate but includes:
• digoxin to improve cardiac function even in sinus rhythm
• sympathomimetic agents to increase heart rate in heart block

(E Chapter 17)
• steroids for possible autoimmune myocarditis (E Chapters 17

and 24)
• Maternal well-​being must be closely monitored as:
• maternal disease may be the cause of the hydrops
• women with hydropic fetuses are at risk of severe pre-​eclampsia

(mirror syndrome).
240
 

Chapter 23 241

Twins and the heart

Introduction  242
Antenatal diagnosis of twin type  244
Cardiac aspects of monochorionic twins  245
Twin–​twin transfusion syndrome in monochorionic twins  246
Role of fetal echocardiography in monochorionic twin
pregnancies  248
24

242 Chapter 23   Twins and the heart

Introduction
• Twins account for approximately 2% of all pregnancies.
• Two-​thirds of these are dizygotic (DZ)—​non-​identical twins resulting
from fertilization of 2 separate oocytes.
• All DZ twins are dichorionic (DC) and diamniotic.
• The remaining third are monozygotic (MZ)—​identical twins, the result
of division of a single embryonic cell mass after fertilization.
• MZ twins may be DC diamniotic, monochorionic (MC) diamniotic or
MC monoamniotic; very rarely they are conjoined.
• Chorionicity depends on timing of division of the embryonic mass
(Table 23.1).
• 7–​10% of DC twins will be MZ and therefore identical:
• A fact not always appreciated postnatally.
• Zygosity can only be defined non-​invasively antenatally if the twins

are different sexes.
• Chorionicity refers to the type of placentation and determines the risk
to the pregnancy:
• Chorionicity can be defined on ultrasound antenatally (Fig. 23.1).

• DC twins are not at increased risk for functional cardiac anomalies as

they have separate placentas.
• The risk for both structural and functional heart disease in MC twins is
increased.
• Intertwin transfusion occurs in the majority of MC twins as a result of
placental anastomoses:
• With the potential for uneven volume distribution
• The basis of TTTS
• With an important impact on the cardiovascular systems of

both twins.

Table 23.1  Timing of division and type of monozygotic twin

Twin type DC/​diamniotic MC/​diamniotic MC/​monoamniotic Conjoined
Timing of <3 days 3–​9 days 9–​12 days Incomplete
division of
embryonic
mass post
fertilization
Proportion 33% 65% 2% very rare
of MZ twins
 

Introduction 243

Fig. 23.1  Lambda sign formed by membrane between sacs of DC diamniotic twins

meeting the placenta.
24

244 Chapter 23   Twins and the heart

Antenatal identification of twin type

• DC twins have:
• 2 separate placentas
• 2 layers of chorion and 2 layers of amnion
• can be diagnosed by defining a lambda sign formed by the thick

chorionic membranes (Figs 23.1 and 23.2).

• DC twins are not considered to be at increased risk for cardiac disease
although:
• risk for structural CHD in MZ diamniotic twins is yet to be quantified

accurately.
• MC twins can be diamniotic or monoamniotic.
• Monoamniotic DC twins:
• 1 single placenta in 2 separate sacs
• 2 separate amnions
• Thin dividing membrane—​T sign (Fig. 23.2).
• Usually have placental anastomoses and share a circulation.

• Monoamniotic MC twins share a sac such that:

• there is no dividing membrane
• umbilical cord entanglement is always present.

• Conjoined twins are extremely rare:

• Division of the cell mass is incomplete.
• There is usually cardiac involvement.

• The later the division of the fertilized call mass, the:

• higher the risk for cardiac anomalies in one or both twins
• greater the risk for pregnancy complications.

Fig. 23.2  Triplet pregnancy consisting of MC diamniotic twins with thin amniotic

membrane separating sacs 1 and 2 and a DC diamniotic fetus (in sac 3) separated by
a thick chorionic and amniotic membrane from the MC pair.
 

Cardiac aspects of monochorionic twins 245

Cardiac aspects of monochorionic twins

• MC twins are at an increased risk for cardiac complications.
• This includes structural anomalies:
• ‘Primary’.
• ‘Acquired’ as a result of functional complications of TTTS.

• In addition, there are functional anomalies as a consequence of TTTS.

‘Primary’ structural cardiac lesions
• The risk for at least one of a MC/​diamniotic twin pair having structural
CHD is between 4% and 11%, even in the absence of TTTS.
• If one MC/​diamniotic twin has structural CHD there is an approximate
20% risk that the other will also have CHD.
• If both twins have CHD, the lesions are usually discordant:
• Even though they are genetically identical.
• Explained in terms of postzygotic events.

• All forms of CHD are recognized in these fetuses:

• VSDs are commonest.

• For MA twins the risk is higher:

• Including for laterality defects which are otherwise uncommon.

‘Acquired’ cardiac anomalies

• As a consequence of fetal haemodynamics in TTTS.
246

246 Chapter 23   Twins and the heart

Twin–​twin transfusion syndrome

in monochorionic twins
• Intertwin transfusion is virtually always present:
• As a result of vascular anastomoses in the single placenta.

• TTTS develops in 10–​15% of MC/​diamniotic twins.

• Cardiovascular abnormalities provide a significant contribution to the
high morbidity and mortality in untreated or advanced TTTS.
• There is a well-​established method of defining the severity of TTTS
according to Quintero staging, see Table 23.2.
• For the majority of MC twins, flow is balanced with even distribution to
each twin and thus there:
• are equal circulating volumes
• is no disruption to haemodynamics.

• In TTTS, there is unequal volume distribution.

• The recipient twin becomes hypervolaemic and hypertensive, with the
potential to cause:
• cardiac hypertrophy and dilatation
• AV valve regurgitation
• diastolic and systolic dysfunction
• right ventricular outflow tract obstruction
• hydrops and fetal death.

• The recipient produces natriuretic peptides causing polyuria and thus

polyhydramnios.
• The donor twin is hypovolaemic and produces vasoactive agents:
• increasing vascular resistance in fetus and placenta.

• The donor becomes oliguric with oligohydramnios.

Table 23.2  Quintero staging for twin–​twin transfusion syndrome*

Stage I Donor bladder visible
Stage II No donor bladder
Normal Doppler assessments
Stage III Abnormal Doppler assessments
For donor:
AEDF/​REDF in donor umbilical artery
+/​−
For recipient:
Abnormal DV flow
Pulsatile umbilical vein
Stage IV Hydrops in 1 twin
Stage V Death of 1/​both twins
AEDF, absent end-​diastolic flow; DV, ductus venosus; REDF, reversed end-​diastolic flow.

* Adapted with permission from Macmillan Publishers Ltd: Journal of Perinatology 19:550–​555,

Quintero R.A et al Staging of Twin-​Twin Transfusion Syndrome, copyright 1999.
 

TTTS IN MONOCHORIONIC TWINS 247

• As a result of their shared circulation:

• each is subjected to the other’s circulating vasoactive agents
• which might further aggravate the situation
• the well-​being of one twin critically depends on that of the other.

• Cardiac manifestations of TTTS are detectable early in the disease

process and can be useful in helping:
• guide management in association with Quintero staging
• assess response to treatment.

• Treatment of TTTS involves laser coagulation of the anastomoses:

• effectively creating a DC placenta
• thus terminating the TTTS process
• and allowing the cardiac anomalies to regress.

• Acquired structural cardiac anomalies include:

• right ventricular outflow tract obstruction in the recipient
• possibly coarctation of the aorta in the donor.

• Functional anomalies, even when severe, respond rapidly and, in many,

completely following treatment.
• Acquired structural anomalies may progress both antenatally and
postnatally even to the point of needing treatment.
• Thus postnatal cardiac assessments are appropriate to determine
resolution or progression.
• Antenatally, both twins are subjected to risk factors for hypertension
and thus postnatal blood pressure measurement is recommended.
• Changes in either twin may be fetal origins of adult disease
(E Chapter 2).
248

248 Chapter 23   Twins and the heart

Role of fetal echocardiography

in monochorionic twin pregnancies
• There are well-​defined protocols for timing of fetal medicine
assessments but from the cardiac perspective.
• Detailed fetal cardiac anatomical assessment at 18–​20 weeks.
• If normal and the pregnancy is uncomplicated, no further cardiac
assessments are needed.
• If there is any suggestion of TTTS developing, cardiac assessment can
refine Quintero staging.
• As a minimum, and as an achievable objective in a busy clinical practice,
serial assessments of:
• cardiac size
• myocardial dimensions
• subjective assessment of function
• quantification of AV valve regurgitation
• E/​A ratios across AV valves
• evidence of outflow tract obstruction
• ductus venosus interrogation.
 

Chapter 24 249

The heart in the sick fetus

Introduction  250
Maternal causes  252
Fetal causes  254
250

250 Chapter 24   The heart in the sick fetus

Introduction
• Separating maternal from fetal causes of fetal compromise is simplifying
the reality of the closely integrated combined unit but serves as a
method of classification, with much overlap.
• The fetus is vulnerable to changing environments including those
brought about by some maternal diseases especially if maternal well-​
being is compromised.
• Major factors determining fetal cardiac output are discussed in other
chapters (E Chapters 17 and 18) and include:
• myocardial function, in particular right ventricular diastolic function
• ventricular preload
• ventricular afterload
• heart rate.

• Assessment of both cardiovascular and biophysical profiles provide

complementary information which can be monitored serially
(E Chapter 17).
• Cardiac failure is the end-​point reflecting inadequate tissue perfusion,
acidosis, and tissue damage.
• Circulatory changes, sometimes involving fetal shunts, and including
brain-​sparing (E p. 273), aim to preserve function in more vital organs.
 

Introduction 251
25

252 Chapter 24   The heart in the sick fetus

Maternal causes
Maternal diabetes
• The association with structural CHD is covered in E Chapter 2.
• Fetal hyperinsulinaemia is associated with proliferation and hypertrophy
of cardiac myocytes leading to cardiac hypertrophy (Fig. 24.1):
• Particularly in the 3rd trimester.
• Probably in proportion to the level of glycaemic control.
• More often seen in macrosomic fetuses.
• Rarely associated with fetal compromise.
• May cause early neonatal symptoms/​signs.

• Resolves spontaneously during first year of life.

Maternal anti-​SSA/​Ro antibodies
• Anti-​SSA/​Ro antibodies are usually present in women with connective
tissue disorders including systemic lupus erythematosus and Sjögren
syndrome.
• Disease in the fetus is unrelated to whether or not the mother has
active disease.
• Many mothers are asymptomatic, the anti-​Ro antibodies only being
discovered during investigation of a fetus with heart block.
• The majority of fetuses with ‘isolated’ heart block (structurally normal
hearts) are associated with maternal anti-​Ro antibodies.
• Anti-​Ro antibodies cross the placenta, mainly during the 2nd trimester,
causing an immune-​mediated inflammatory response in the fetal
myocardium and AV conduction system, particularly affecting the
AV node.

Fig. 24.1  4-​chamber view showing IVS at least twice as thick as LV posterior wall
and RV anterior wall in fetus of type 1 diabetic woman.
 

Maternal causes 253

• This process may cause irreversible damage to the conducting tissue and
lead to a degree of heart block (see Chapter 17):
• 1st-​and 2nd-​degree block is not necessarily progressive and spon-

taneous resolution in the fetus has been documented.

• It may progress postnatally.
• 3rd-​degree (complete) AV block is virtually always permanent.
• 2–​3% of fetuses in mothers with anti-​Ro antibodies develop complete
heart block:
• Recurrence in subsequent pregnancies increases to 20%.

• Rarely endocardial fibroelastosis may develop in any part of the heart:

• With uncertain prognosis.

• Maternal medication with the aim of prevention is controversial and as

yet unproven (E Chapter 17):
• Maternal hydroxychloroquine possibly reduces the risk of

heart block.
• Maternal steroids are probably only indicated if there is evidence of

an active inflammatory process, e.g. inappropriate pericardial fluid.

• If complete heart block develops, close monitoring of heart rate,
function, and fetal well-​being is appropriate.
• Ventricular rates above 50/​min are usually well tolerated:
• Presence of hydrops at an early stage suggests a guarded prognosis.

• In the presence of 2nd-​or 3rd-​degree heart block, delivery by

caesarean section is usual as monitoring fetal well-​being in labour is
difficult.
• DCM may develop later in childhood.
Severe intrauterine growth restriction
• Placental dysfunction secondary to maternal factors can lead to
increased placental vascular resistance.
• In the fetal circulation, up to 80% of the RV output returns directly to
the placenta.
• Increased RV afterload may cause RV enlargement:
• And a possible impact on systemic venous return to the RA.
• These can be monitored as discussed in E Chapter 18.

• Redistribution of flow to vital organs takes place including ‘brain-​sparing’

involving redirection of flow at the aortic isthmus, cerebral vasodilation
manifested as increased diastolic flow velocity.
Use of non-​steroidal anti-​inflammatory drugs
• See E p. 254.
Maternal infections
• See E Chapter 2.
254

254 Chapter 24   The heart in the sick fetus

Fetal causes
Structural congenital heart disease
• Most structural lesions are well tolerated in pregnancy.
• The few exceptions include:
• Ebstein’s anomaly/​tricuspid valve dysplasia
• critical aortic stenosis with a dilated LV
• many cardiomyopathies
• those in whom an arrhythmia is also present.

• See relevant chapters for further details.

Twin–​twin transfusion syndrome
• Particularly in the recipient twin (E Chapter 23).
Fetal infection
• Infection is well recognized as a cause of fetal hydrops.
• Viral agents identified include adenoviruses and parvovirus.
• They may exert their effects either by:
• inducing myocarditis
• causing hepatitis and compromising protein production
• by causing haemolytic anaemia (particularly parvovirus).

Premature closure of the ductus arteriosus

• The commonest recognized cause is the use of NSAIDs:
• either specifically as an anti-​tocolytic or to reduce liquor volume
• or because of inadvertent maternal ingestion.

• Often no cause is identified though a careful drug, dietary,

and complementary therapy history may reveal a possible
aetiological factor.
• Narrowing or closure of the ductus arteriosus may be visible on 2D
imaging:
• usually in association with RV dilation.

• Colour and pulsed wave Doppler assessment demonstrate increased

velocity both in systole and diastole (see Fig. 24.2a–​c).
• And thus a reduction in pulsatility index (PI) calculated from pulsed

wave Doppler interrogation of the DA.

• PI = systolic –​diastolic velocities/​mean velocity with normal range

being 1.9–​3 (Fig. 24.2d).

• Changes usually rapidly resolve if the precipitating factor is removed.
• Cardiac manifestations of a restricted DA include:
• enlargement of the right heart (Fig. 24.3)
• pulmonary artery
• tricuspid regurgitation
• pulmonary regurgitation
• prominent pulmonary veins with increased pulmonary venous return.

• Indications for delivery are not clear cut but may include:
• complete closure of the ductus arteriosus
• severe and progressive tricuspid regurgitation
 

Fetal causes 255

• progressive pulmonary regurgitation

• retrograde flow in the ductus venosus
• hydrops.

• Postnatally, there is a risk of pulmonary hypertension and right

ventricular dysfunction.
Fetal anaemia
• May be caused by immune or non-​immune factors.
• Haemodynamic changes include:
• reduced oxygen-​carrying capacity of the blood
• increased cardiac output leading to a hyperdynamic circulation
• increased middle cerebral artery systolic velocity, providing ven-

tricular systolic function is not impaired.

• Middle cerebral artery Doppler velocity is a reliable tool for diagnosis.
Pleural effusions
• May be present in isolation—​primary—​or as part of a more general
hydropic process (E Chapter 22).
• May be associated with other anomalies:
• structural
• syndromic
• chromosomal
• or with infections.

• Prognosis depends on size, gestation, whether uni-​or bilateral, and the

underlying aetiology, which is often unknown.
• Large effusions act as space-​occupying lesions and may have a significant
haemodynamic effect.
• Fetal intervention may have a dramatic effect but re-​accumulation is
common.
Fetal hydrops
• See E Chapter 22.
Fetal cardiac arrhythmias
• See E Chapter 17.
Fetal cardiomyopathies
• See E Chapter 19.
Fetal arteriovenous fistulae
• Can occur in the liver, lung, coronary circulation, brain, placenta, or in
conjunction with sacrococcygeal teratoma.
• May result in increased cardiac output.
Fetal cardiac tumours
• See E Chapter 20.
256

256 Chapter 24   The heart in the sick fetus

(a)

(b)

Fig. 24.2 Oblique 3-​vessel view showing constriction at the PA end of the DA with

increase in blood velocity across that region shown on colour flow Doppler. (See
colour plate section). (a) (plain) and (b) (annotated). (c) Pulsed wave Doppler across
constricted DA showing increase in systolic and diastolic velocity and low PI with DA
constriction. (d) Chart of normal DA PI (systolic velocity –​diastolic/​mean velocity)
used to evaluate and monitor DA constriction.
Part (d) adapted from Huhta JC (2005) Fetal congestive heart failure, Seminars in Fetal & Neonatal
Medicine 10;542–​52 with permission from Elsevier.
 

Fetal causes 257

(c)

(d) 5
Increased RV Output
4

consider anaemia, AV fistula

3
PI Normal
2

1 Ductal Constriction

0
10 20 30 40
Gestational Age
(weeks)
Fig. 24.2  (Contd)
258

258 Chapter 24   The heart in the sick fetus

Fig. 24.3  4-​chamber view in systole showing dilated RV in fetus with DA

constriction.
 

Chapter 25 259

Pregnancy management
of fetal cardiac disease

Introduction  260
Diagnosis  261
Counselling  262
Management of pregnancy  264
Fetal intervention  265
Management of delivery  266
Place of delivery  267
Future pregnancies  268
260

260 Chapter 25   Management of fetal cardiac disease

Introduction
• Cardiac abnormalities account for approximately 20% of neonatal
deaths and in some the cardiac cause is only identified at postmortem.
• A falling proportion of CHD remains undetected during pregnancy.
• Many diagnoses only influence antenatal management with respect to
communication and arranging postnatal cardiological review.
• There are some lesions for which prenatal diagnosis may improve
postnatal outcome both in terms of mortality and morbidity.
• Most cardiac lesions do not alter pregnancy management and only very
few are better delivered early or by elective caesarean section.
• A few lesions should be delivered where intervention is available on the
same hospital campus such as:
• simple transposition in case of the need for atrial septostomy
• obstructed TAPVD (rarely diagnosed in utero)
• possibly HLHS with obstructed foramen ovale if active management

is intended, this is a matter for debate.

• Whether duct-​dependent cardiac lesions are delivered in their local
hospital or in a cardiac centre varies according to local facilities,
expertise, and transport considerations as well as family preferences.
• After a diagnosis of CHD is made in utero, the aim is to optimize care
for the fetus and the parents in pregnancy and in the newborn period.
• Some problems require close monitoring of the cardiac status during
the pregnancy, e.g.:
• tricuspid valve disease (E p. 112)
• foramen ovale size in TGA and HLHS
• lesions that may progress or regress as gestation advances
• dysrhythmias
• pericardial effusions
• cardiac tumours
• heart muscle disease.

• For other lesions, very little monitoring in pregnancy is required, such as

isolated small or medium sized VSDs.
• In a very few cases, prenatal management might include some form of
cardiac intervention during pregnancy, such as:
• foramen ovale restricting flow in HLHS and TGA
• optimizing ventricular growth in AS.

• Communication and updating of information with other members of

the team—​obstetrician, GP, midwife, and neonatologist in both the
cardiac unit and local unit are crucial to integrated care.
 

Diagnosis 261

Diagnosis
• Following the suspicion of a cardiac anomaly, prompt referral to a
specialist unit is advisable where the diagnosis can be confirmed and
explained.
• Involvement of a multidisciplinary team is appropriate so that non-​
cardiac problems including chromosomal, syndromic, and structural
anomalies can be identified or, as far as is possible, excluded.
• This may also include discussion of the option for invasive testing.
• Important additional diagnostic information may be obtained as the
pregnancy advances.
26

262 Chapter 25   Management of fetal cardiac disease

Counselling
• Following confirmation of a cardiac anomaly the family should be
counselled in detail, including:
• explanation of the cardiac diagnosis
• possible postnatal management and treatment options
• prognosis and guide to outcome for the cardiac diagnosis
• likelihood for coexisting non-​cardiac anomalies
• potential for fetal compromise during the remainder of the

pregnancy
• clear diagrams and written notes for parents to take away for further

reference are helpful

• easy access route back for further discussion before the follow-​up

appointment if wanted.
• Figures for surgical outcome should be available for the unit involved
as well as nationally (in UK available from the Central Cardiac Audit
Database: M http://​www.ccad.org.uk/​congenital) although this
information requires a clear explanation and guidance as it may be
difficult to interpret in the context of a prenatally diagnosed anomaly.
• It is important the family understands the following:
• The limitations of prenatal diagnosis.
• The concept of evolution of a cardiac lesion during pregnancy,

usually with progression—​particularly relevant if the anomaly is

detected early in pregnancy.
• The potential for the existence of further non-​cardiac problems not

identifiable prenatally which may significantly influence postnatal mor-

bidity and mortality.
• Limitations in knowledge such as long-​term survival and quality of life

following surgery for some lesions, including HLHS.

• Cardiac anomalies identified prenatally tend towards the more se-

vere end of the spectrum and are associated with higher morbidity
and mortality before and after birth.
• The possibility of termination when appropriate.

• Postnatal treatment options are now available for almost all forms of
CHD, however severe; for some, treatment will be palliative with the
possibility of several procedures before school age.
• Discussion should also include possible aetiologies; this may also provide
an opportunity to reassure parents that the problem is unlikely to be
due to factors within their control.
• Risk of intrauterine death is small but higher in presence of non-​cardiac
anomalies especially chromosomal or when associated with rhythm
disturbances, particularly heart block.
• Termination of pregnancy is legal in the UK until 24 weeks; after that it
is still possible if the abnormality is considered ‘likely to cause serious
handicap’ but at the discretion of the obstetrician and this varies
elsewhere.
 

Counselling 263

• The possibility of providing compassionate care and no active treatment

may also be included in discussion of situations where treatment is
palliative with a high risk, as in the Norwood procedure for HLHS;
however, as survival figures improve, this may cease to be an option.
• It is helpful if the referring clinician can prepare the family for the
possibility of a problem; this allows them to arrange for both parents
to attend.
As far as is possible, counselling should be non-​directive and the family
reassured that they have time to make important and far-​reaching decisions;
they need to know that whatever their choice they will be given support.
They are likely to feel over-​loaded with information and should be given
the opportunity for further discussion on another occasion after they have
had time to assimilate some of the facts. Advice as to which websites are
helpful and accurate may also be appropriate; however, families should be
encouraged to discuss any discrepancies they detect. (See ‘Further reading’.)
Further reading
A selection of useful websites includes:
British Heart Foundation: M www.bhf.org.uk
Boston Children’s Hospital: M www.childrenshospital.org
Royal Children’s Hospital Melbourne: M www.rch.org.au/​cardiology/​parent info/​parent information
264

264 Chapter 25   Management of fetal cardiac disease

Management of the pregnancy

• The presence of a cardiac anomaly diagnosed prenatally does not
usually need to influence management of the pregnancy.
• For the few cardiac lesions where early delivery is a possibility,
administration of maternal steroids may be appropriate in order to aid
maturity of the fetal lungs.
• Meanwhile, fetal well-​being should be monitored in the usual way.
• For pregnancies where delivery in the local unit is planned, a reliable
method of alerting the neonatologist to the forthcoming birth is
essential, along with guidelines as to what early postnatal management is
appropriate and when and who should be contacted after delivery.
• For pregnancies where delivery is planned in a unit with cardiac facilities,
it is still important to ensure the local team have clear guidelines for
perinatal care in case delivery takes place locally.
• For cardiac lesions where progression is recognized to be a significant
risk, regular (monthly, reducing the interval to 2-​weekly near term)
assessments can help to determine optimal time and place for delivery.
• The likelihood for duct dependency may become apparent during
serial monitoring in cases where progression of the lesion can be
demonstrated.
• Intrauterine death in the presence of CHD is unusual; factors increasing
the risk of IUD include
• presence of karyotypic anomalies
• presence of extracardiac structural anomalies
• structural CHD associated with complete heart block
• few specific cardiac lesions including tricuspid dysplasia, Ebstein’s

anomaly, and critical aortic stenosis.

• Prematurity (delivery before 36 weeks) significantly increases morbidity
and mortality in babies born with severe CHD, especially in the
presence of non-​cardiac anomalies.
• For management of arrhythmias, see E Chapter 17.
• Some families wish to meet the surgeon before delivery; many value the
opportunity to meet with cardiac liaison nurses at some point.
• Induction labour may be appropriate if delivery in the cardiac centre is
planned.
 

Fetal intervention 265

Fetal intervention
• Fetal treatment of cardiac arrhythmias is well established as effective
(E Chapter 17).
• The benefit of fetal intervention for structural cardiac anomalies is
widely debated.
• Safety of the mother is the first priority.
Catheter intervention has been performed for several cardiac lesions
including:
• Aortic stenosis and pulmonary stenosis:
• The stimulus for growth of chambers and vessels is blood flow.
• In the presence of significant stenosis of a valve, blood may take an

alternative route of lower resistance resulting in further valvar ob-

struction or chamber underdevelopment.
• It is usually assumed that to have 2 functioning ventricles—​a ‘bi-​

ventricular circulation’—​postnatally is preferable to a palliated single-​

ventricle circulation.
• The objective for offering in utero balloon valvuloplasty for aortic or

pulmonary stenosis is to maintain flow through the stenotic valve and

to encourage growth of the corresponding chambers with the aim of
achieving a biventricular circulation postnatally.
• Hypoplastic left heart syndrome:
• In HLHS, unrestricted flow through the atrial septum is essential for

survival in utero and immediately postnatally.

• In HLHS, there is potential for the atrial septum to close; this can

lead to hydrops and intrauterine death

• Performing an atrial septostomy in utero may be achievable but the

gap created tends to close soon afterwards; insertion of a stent in

the atrial septum may allow patency to be preserved.
• It is unclear as to whether or not this has postnatal benefit in terms

of less diseased pulmonary vasculature.

Such invasive techniques carry with them a risk of inducing miscarriage
or preterm labour as well as a small risk of haemorrhage, infection, and
intrauterine death. These procedures are technically challenging, and in-
volve teamwork and collaboration between fetal medicine specialists and
cardiologists. Concentration of treatments in a few centres and careful
documentation of cases are likely to give the best results and reliable data
on efficacy.
26

266 Chapter 25   Management of fetal cardiac disease

Management of delivery
• Timing and method of delivery does not usually need to be altered in
the presence of a cardiac anomaly; the normal obstetric indications for
instrumental delivery or caesarean section should be followed.
• Where significant distances may be involved, induction near term may
be appropriate to avoid travelling in labour if delivery in the cardiac
centre is planned.
• Most fetuses with CHD tolerate labour well although exceptions to this
would include:
• sustained arrhythmias in whom monitoring of fetal well-​being during

labour would be impossible

• fetuses with compromised cardiac function and a low cardiovascular

profile score
• fetal hydrops.
 

Place of delivery 267

Place of delivery
• Place of delivery may be influenced by a number of factors including
diagnosis, local resources, and parental preference; if delivery is likely to
be by caesarean section, prenatal transfer to a cardiac unit minimizes the
risk of separation if a neonatal procedure is required.
• Different cardiac units have their own policies for where babies
known to have CHD should ideally be delivered and have a working
relationship with their referring neonatal departments.
• If very early intervention is anticipated, as when the atrial septum is
restrictive in HLHS or TGA (see E Chapters 10 and 13), delivery
should be where an early atrial septostomy can be performed.
• For duct-​dependent lesions (see Table 25.1) the policy will be different
in various units but many neonatal units are able to start prostaglandin
and discuss further management with the paediatric cardiac service.

Table 25.1  Duct-​dependent cardiac lesions

Left sided Right sided Mixed
Critical aortic stenosis Critical pulmonary stenosis Transposition*
Aortic atresia Pulmonary atresia with intact
ventricular septum
Hypoplastic left heart Pulmonary atresia with VSD
syndrome (including severe tetralogy of Fallot)*
Coarctation of the aorta* Tricuspid atresia*
Interrupted aortic arch

* Not all are duct dependent.

268

268 Chapter 25   Management of fetal cardiac disease

Future pregnancies
Following a pregnancy with CHD—​whether with a successful outcome or
resulting in termination of pregnancy or intrauterine death—​an opportunity
must be given to discuss all aspects including:
• risks to future pregnancies
• any specific preconception measures (e.g. changing drug management of
maternal disease)
• the nature and timing of relevant fetal assessments and diagnostic
procedures in future pregnancies.
 

Chapter 26 269

Neurodevelopment and
fetal cardiac disease

Introduction  270
Haemodynamics  271
Specific cardiac lesions  272
Methods of assessment  273
Prevention or damage limitation  274
Parental counselling  274
270

270 Chapter 26   Fetal cardiac disease

Introduction
The potential for cerebral perfusion to be compromised in a fetus with
structural or functional heart disease is an important but as yet poorly
understood issue.
Counselling for a fetal structural cardiac lesion includes discussion of
possible additional non-​cardiac problems for which the cardiac lesion may
serve as a marker and which may themselves have a greater impact on
survival and quality of life than the cardiac lesion itself. There is increasing
interest as to whether this discussion should include the unquantified associ-
ation between CHD and potential for compromised neurodevelopment; in
practice, it is not uncommon for parents to raise this question themselves.
• Many studies are in progress to try to address this problem.
• Different methods are used to try to quantify the impact of altered
haemodynamics on cerebral perfusion in the vulnerable fetal brain.
• Evaluation of neurodevelopment in neonates and beyond in clinical
practice is not always straightforward, particularly if they are acutely or
chronically unwell.
• Evaluation is complicated and separating fetal factors from early infancy
factors remains a challenge:
• Especially in those having major cardiac surgery in the first few days

of life.
• And in those with other factors including prematurity and genetic

syndromes.
• If the risk of neurodevelopmental delay is overstated, termination

of pregnancy may be requested because of this fear, even though

expectations would be good for the cardiac diagnosis alone.
 

Haemodynamics 271

Haemodynamics
• The fetal circulation allows the most highly oxygenated arterial blood to
be directed to the brain and myocardium as the ductus venosus directs
highly oxygenated blood from the placenta into the RA, across the atrial
septum to the LA to LV and ascending aorta.
• Normal fetal cerebral blood oxygen saturation is approximately 75%.
• Alteration of these blood flow patterns may reduce the supply to
myocardium and brain of:
• oxygen
• glucose and other metabolic substrates.

• Oxygen saturation in the cerebral arterial blood has been found to be

reduced in certain forms of structural CHD:
• 50% in HLHS
• 43% in TGA.

• The ductus arteriosus directs less highly oxygenated blood from the
systemic veins to the RA, to the RV, to the PA, and then into the
descending aorta to return to the placenta.
27

272 Chapter 26   Fetal cardiac disease

Specific cardiac lesions

The concern is mainly with:
• Lesions where cerebral perfusion is retrograde via the arterial duct, e.g.
critical aortic stenosis and HLHS:
• Cerebral blood flow may be reduced and will have lower oxygen

levels than normal.

• Lesions with altered streaming, e.g. TGA:
• Blood from the placenta and via ductus venosus is directed across

the atrial septum to the LA, to the LV, and then to the lungs via
the PA.
• Blood from the RV with lower oxygen saturation (and possibly

glucose content as well) thus perfuses the coronary and cerebral

vessels.
• Possibly in lesions with increased mixing, e.g. tetralogy of Fallot.
• Possibly in association with poor function and hydrops, from
whatever cause including arrhythmias.
 

Methods of assessment 273

Methods of assessment
Several different methods are used, all relatively crude, to establish and
quantify alterations in cerebral perfusion and associated development and
include the following.
Assessment of cerebral blood flow redistribution
• Using PW Doppler to measure MCA PI to detect evidence of cerebral
vasodilation (i.e. attempting ‘brain sparing’).
• Brain sparing describes the process of cerebral redistribution to improve
oxygen delivery to the brain.
• A reduction in MCA PI, similar to that seen in fetal hypoxia with growth
restriction, has been demonstrated in fetuses with HLHS, progressively
in the 3rd trimester.
• In some studies, cerebral vasodilatation was associated with better
neurodevelopmental outcome; in others, a worse outcome.
• It is not clear if cerebral vasodilation detected in this way correlates with
neurodevelopmental outcome.
Assessment of brain weight and volume
• Using MRI.
• In utero ± neonatally to estimate global brain volumes.
• In some studies, 3rd-​trimester fetuses with certain forms of CHD have
smaller total brain volumes than weight-​adjusted fetuses with normal
hearts.
• The relationship between brain size and function is complex.
• Other studies have found that antenatally detected brain abnormalities
are relatively mild and thus their predictive value is unknown.
• Thus the correlation of MRI findings and neuropathology remains
inconclusive.
Neurodevelopmental testing in childhood
• Standard testing throughout school years and includes:
• Cognition
• Motor skills
• Communication skills
• Daily living and adaptive behaviour.

• Any deviation from the norm can be the result of many genetic,
congenital, and acquired factors.
274

274 Chapter 26   Fetal cardiac disease

Prevention or damage limitation

All theoretical at present but include:
• fetal intervention:
• e.g. aortic balloon valvuloplasty in critical aortic stenosis to

­encourage forward flow around the aortic arch

• maternal hyperoxygenation:
• fetal brain size has been correlated with fetal ascending aorta oxygen

­saturation and cerebral oxygen consumption.

Parental counselling
The impact of CHD in the fetus on cerebral development is difficult to
quantify:
• It is important not to overstate the potential impact, as the evidence is
still unclear.
• However, it is appropriate to discuss the dilemma for certain lesions.
 

Chapter 27 275

Postnatal evaluation

Introduction  276
History and examination  276
Echocardiography  276
Radiology  277
Magnetic resonance imaging  277
Electrocardiography  277
Chromosome analysis and gene testing  278
Metabolic testing  278
Autopsy examination  279
276

276 Chapter 27   Postnatal evaluation

Introduction
There are differences between fetal and postnatal investigations for a var-
iety of reasons. Members of the fetal team need to be aware of the scope
of post-​delivery tests so that prenatal management including counselling is
consistent with later approaches. Ways in which tests are similar or differ
post delivery are outlined in the following topics.

History and examination

• Both cardiac and non-​cardiac diagnoses may be modified by post-​
delivery assessment, in particular some syndrome diagnoses may be
more obvious.
• Re-​evaluation of parental and family history may be indicated if
previously unsuspected syndromal diagnoses need to be considered
and investigated.
• If a cardiac or non-​cardiac abnormality is suspected postnatally which
was thought to have been excluded by fetal evaluation, it is important to
reinvestigate.
• Cardiac conditions not usually detected in utero which may have
syndromic implications include:
• William’s syndrome (pulmonary artery branch stenosis, supravalvar

aortic stenosis)
• Holt–​Oram syndrome (ASD).; autosomal dominant
• Wolff–​Parkinson–​White syndrome (short PR interval on ECG),

­occasionally familial
• Alagille syndrome (pulmonary artery branch stenoses)
• many cardiomyopathies with genetic and/​or metabolic causes.

Echocardiography
A cardiac diagnosis made before delivery should be confirmed by echocar-
diography in live-​born infants. The timing of this assessment will depend
on the abnormality and a plan should be clearly stated in fetal reports in
maternal case notes. Any discrepancy between fetal cardiac diagnosis and
neonatal clinical assessment should be investigated as indicated by the clin-
ical picture.
 

Electrocardiography 277

Radiology
Chest X-​ray, computed tomography angiography, and cardiac angiography
(cardiac catheterization) are all used in the evaluation of infants with cardiac
disease. In some cases this can be predicted antenatally, allowing parents
to be informed of the likely postnatal course of events. Interventional car-
diac catheterization is used to treat a number of conditions (e.g. pulmonary
atresia or critical pulmonary stenosis) and is done under X-​ray control.
Balloon atrial septostomy (most usually for TGA) is often done using ultra-
sound guidance.

Magnetic resonance imaging

This is widely used in evaluation of CHD in infants and children whereas it is
not clinically used often in the fetus because of the problems of movement
and of ECG gating. It does require heavy sedation or more often general
anaesthesia in the infant and therefore is less used than computed tomog-
raphy scanning which does not usually require anaesthesia. In the evaluation
of some pathologies, postmortem MRI is considered; this is not particularly
valuable in structural heart disease.

Electrocardiography
Is used postnatally for:
• determining cardiac rhythm
• assessing risk of arrhythmia (e.g. short PR, long QT interval)
• assessing heart muscle disease
• assessing structural heart disease.
278

278 Chapter 27   Postnatal evaluation

Chromosome analysis and gene testing

• In live born or dead fetuses, blood lymphocytes, skin fibroblasts (easily
obtained if cardiac surgical intervention planned), and other tissue can
be obtained for analysis if prenatal samples are not available.
• Cord blood sampling may be valuable in making/​confirming genetic
diagnoses; this requires careful planning and good communication.
• Additional diagnoses may be entertained and warrant further testing of
previously obtained samples.
• Tissue should be stored for later analysis if diagnostic doubt exists.
• Samples from other family members are becoming increasingly relevant,
this requires sensitive counselling.
• See E Chapter 8 for details of these tests.

Metabolic testing
The following should be borne in mind:
• Storage disorders associated with cardiac hypertrophy may not be
recognized on fetal echocardiography.
• Fetal echocardiography has a low sensitivity and specificity for many
metabolic conditions with myocardial involvement.
• If a precise diagnosis can be made on biochemical grounds, this usually
requires postnatal investigation.
• Enzyme deficiencies or known gene defects may be detectable by
invasive prenatal as well as by postnatal testing but samples usually take
a considerable time to process.
• If a metabolic disorder is suspected prenatally, the fetal team needs
to ensure the appropriate post-​delivery investigations are planned
beforehand whenever possible.
• Specialist advice is needed in order to investigate and manage suspected
metabolic disorders efficiently.
 

Autopsy examination 279

Autopsy examination
No matter at what stage and under what circumstances death occurs, aut-
opsy examination is highly desirable for the following reasons:
• To confirm, refute, or modify any diagnoses made both for the sake of
the family and of the professionals involved.
• To allow as accurate a prediction as possible to be made about the risk
of recurrence and the relevance of a diagnosis to other family members.
• Full autopsy may not be possible or consented to, but the following
aspects need to be considered:
• Gross anatomy of all systems.
• Histology of definitely or possibly abnormal tissues.
• Chromosomal and genetic sampling.
• Imaging (e.g. bone X-​rays, brain MRI).
• Biochemical/​metabolic sampling.
• Storage of DNA for later testing.

It is most helpful to have a lead clinician who coordinates results and

communicates with the family. It is important for this person to identify un-
answered questions and to ensure a mechanism is in place for dealing with
these in the future in the light of new medical or family information.
280
 

281

Index

Numbers amniocentesis 71
anaemia, fetal  255
persistent fifth aortic
arch 105
1p36 deletion  16 aneuploidies 14, 15 right aortic
7q11 deletion (Williams anomaly scan  40 arch  101–​2, 103
­syndrome)  15–6, 276 indications for detailed vascular rings  105
9q34 deletion (Kleefstra cardiac scan  42 right-​sided  126
syndrome) 16 anticonvulsants, maternal arterial duct  see ductus
11q23 deletion (Jacobsen exposure  9–​10 arteriosus
syndrome) 16 antidepressants, maternal arteriovenous anomalies  43
22q11 deletion  15–6, 19 exposure 9 arteriovenous fistulae  255
truncus arteriosus  150 anti-​La antibodies  42, 202 ascites 233
VSD 134 anti-​Ro asplenia 159
22q11 duplication  15–6  antibodies  42, 252–​8 assisted reproduction, CHD
cardiomyopathy 216, 217 risk 10
A heart block  202, 203
aorta
atrial (supraventricular)
ectopics (SVEs)  186
Abernethy abnormal diagnosis 187, 188
malformations 108 appearances 166 follow-​up  188
aberrant subclavian dilated 170 management  187–​8
­artery  102, 104 small 170 significance 187
absent right atrioventricular normal appearances  33 atrial flutter  191, 204
connection  110–​11  screening examination  56 M-​mode
ACE inhibitors, maternal aortic arch anomalies echocardiography 192
exposure 9 coarctation of the atrial septal defect
adenosine 196 aorta  98–​100 (ASD) 128
aetiology of fetal heart double aortic arch  104–​10 classification 80
disease 6 interrupted aortic atrial septostomy  265
genetic factors  12 arch  100–​1 atrial septum, normal
aneuploidies 15 persistent fifth aortic appearances 32, 33
non-​syndromic chromo- arch 105 atrial shunting  128
somal disorders  15 right aortic atrioventricular accessory
non-​syndromic single arch  101–​2, 103 pathways 191
gene disorders  17 aortic atresia  95 atrioventricular anomalies
structural chromosomal aortic stenosis  92 classification 80
abnormalities 16 catheter intervention  left-​sided
syndromic chromosomal 265 mitral atresia  90
disorders  14–​15 cerebral perfusion  272 mitral hypoplasia  90
syndromic single gene aortic valve right-​sided
disorders  16–​17 stenosis  92–​4 Ebstein’s
maternal factors aortopulmonary malformation  112–1​ 4
assisted reproduction  10 window 105, 106 tricuspid atresia 
diabetes mellitus  8 arrhythmias  172, 189, 204 110–​11
infections 10 see also bradycardia; tricuspid valve
non-​therapeutic drug cardiac rhythm; dysplasia  112–​14
exposure 10 tachycardia atrioventricular block
phenylketonuria 8 arterial anomalies first-​degree  200
therapeutic drug classification 80 maternal anti-​Ro
exposure  8–​14 left-​sided antibodies 202,
afterload, determining aberrant subclavian 203, 252–​8
factors 236 artery 102, 104 M-​mode
Alagille syndrome  17, 19, aortopulmonary echocardiography 201
121, 276 window 105, 106 second-​degree  200
alcohol, maternal intake  10 coarctation of the third-​degree
amiodarone aorta  98–​100 (complete)  200–​3
in supraventricular double aortic causes and
tachycardia 196 arch  104–​10 associations 202
in ventricular interrupted aortic prognosis 203
tachycardia 198 arch  100–​1 treatment  202–​3
28

282 INDEX

atrioventricular junction cardiac chambers dilated  214–​15, 216

normal anatomy  30 abnormal hypertrophic 214, 215
right-​sided anomalies, appearances  164–​70 miscellaneous types  216
pulmonary normal appearances  31 restrictive 216, 217
stenosis  116–​17 see also left atrium; left treatment 218
atrioventricular nodal ventricle; right atrium; cardiothoracic ratio
re-​entry tachycardia right ventricle (C:T ratio) 208
(AVNRT) 193 cardiac failure  250 cardiovascular disease,
atrioventricular node  180 see also hydrops role of developmental
atrioventricular re-​entry cardiac function programming 21
tachycardia (AVRT)  assessment 206 cardiovascular profile
190–​6 atrioventricular valve score 209, 210
atrioventricular septal defect ­inflow patterns  208 cat eye syndrome  16
(AVSD) 136 atrioventricular valve catheter intervention  265
associated non-​cardiac regurgitation 208 cerebral blood flow redis-
anomalies 18, 19 cardiovascular profile tribution assessment  273
classification 81 score 209, 210 cerebral perfusion  270
complete  137–​8, 139 contractility 208 assessment 273
intermediate type  138 ductus venosus  206–​12 haemodynamics 271
partial  136–​42 heart size  208, 209 improvement of
atrioventricular myocardial performance fetal intervention  274
septum, normal score 209 maternal hyper­
appearances 32, 33 cardiac output, determining oxygenation 274
atrioventricular valves factors 236, 250 in specific cardiac
inflow patterns  208 cardiac position lesions 272
off-​setting abnormal 167 chaotic atrial
abnormalities 165 abnormal development rhythm 193, 204
regurgitation 208 of thoracic contents  CHARGE syndrome  17, 19,
see also mitral valve; 177 121, 138
tricuspid valve cardiac anomalies  176 CHD7 gene mutations  17
autopsy examination  279 normal  30–​6, 174 chorionic villus sampling  71
azygous vein anomalies  108 cardiac rhythm chorionicity of
abnormalities detected twins 242, 243
at midwifery check  189 chromosomal disorders
B assessment of 182 association with tetralogy
balloon valvuloplasty  265 M-​mode echocardio­ of Fallot  121
beta blockers  196, 198 graphy 183 non-​syndromic  15
big heart, causes  165 PW Doppler  184 numerical (aneuploidy)  14
bilateral superior vena bradycardia 172 structural  14–​20
cava 87 atrioventricular block  syndromic  14–​20
bowel atresias, associated 200–​3 chromosome analysis  278
cardiac lesions  44 sinus 200 chromosome tests  72
bradycardia 172 conduction pathways  180 circulation, fetal  34–​6
atrioventricular block indications for a detailed changes at birth  36, 37
first-​degree  200 cardiac scan  42 physiological variations  36
second-​degree  200 irregular rhythms  172, 204 coarctation of the aorta
third-​degree normal rhythms  55 associated non-​cardiac
(complete) 200 atrial (supraventricular) anomalies 19
sinus 200 ectopics  186–​8 four-​chamber view  99
sudden transient sinus sinus rhythm  186 three-​vessel view  99
bradycardia 186 sinus tachycardia  186 cocaine, maternal
sustained 186 sudden transient sinus exposure 10
brain bradycardia 186 collagen vascular ­disease,
see also neurodevelopment PR interval  180 maternal  202, 217,
‘brain sparing’  21, 253, 273 tachycardia 172 252–​3
bundle of His  180 general evaluation  190 colour Doppler  49, 50
supraventricular common arterial trunk  19
(SVT)  190–​7 complete atrioventricular
C ventricular  197–​8 septal defect  137–​8, 139
carbamazepine, maternal cardiomyopathy 212 complete heart
exposure  9–​10 assessment 218 block  200–​3, 253
cardiac axis association with maternal causes and
abnormalities 42 antibodies 202 associations 202
 

INDEX 283

M-​mode digoxin image quality, influencing

echocardiography 201 in hydrops  239 factors 52
prognosis 203 in supraventricular indications for  42–​8
treatment  202–​3 tachycardia 194 limitations 4, 61
communication 52 dilated cardiomyopathy M-​mode  50, 51, 182, 183
conduction pathways  180 (DCM)  214–​15, 216 normal anatomy
abnormalities dizygotic (DZ) twins  242 atrial and atrioventricular
atrioventricular accessory Doppler echocardiography septa 32, 33
pathways 191 abnormal cardiac chambers  31
see also appearances  170–​6 differences between right
atrioventricular block cardiac rhythm and left ventricles  32
congenital diaphragmatic assessment 182, fetal cardiac position and
hernia 177 183, 184 axis  30–​6
associated cardiac atrial (supraventricular) great arteries  32–​8
lesions 44 ectopics 188 ventricular septum  32
congenitally corrected colour Doppler  49, 50 normal fetal circulation  52
transposition of the great continuous wave postnatal 276
arteries  148–​9 Doppler 50 screening
conjoined twins  244 pulsed wave  48, 49 examination  54–​8
consanguinity, history double aortic arch  104–​10 aorta/​left ventricular
taking 24 double inlet ventricle  outflow tract  56
continuous wave (CW) 154–​60 four-​chamber view  55
Doppler 50 double outlet right lesions detected using
contractility assessment  208 ventricle 123 great artery views  58
coronary arterial Down syndrome (trisomy 21)  pulmonary/​right
anomalies 118 15, 19, 43 ­ventricular outflow
coronary sinus drug exposure  42 tract 56, 57
normal appearances  31 non-​therapeutic  10 situs/​laterality  54
prominence 87, 88 therapeutic  8–​14 three-​vessel trachea
counselling  6, 262–​8 duct-​dependent lesions  view 56
on cerebral 267 three-​vessel trachea
development 274 ductus arteriosus  34, view 64
cystic hygroma  44 35, 271 abnormalities 68
closure after birth  36 normal
premature closure  9–​10, appearances 66, 67
D 254–​60 echogenic foci (‘golf
deletions, screening examination  57 balls’) 222, 223
chromosomal  14–​20 ductus venosus  34, 35 ectopia cordis  176
delivery management  266 absence of   43, 108 ectopics 204
delivery planning  264 assessment of  206–​7 atrial (supraventricular,
place of delivery  267 causes of retrograde SVEs) 186
developmental flow 207 diagnosis 187, 188
programming 21 closure after birth  36 follow-​up  188
dexamethasone duodenal atresia  44 management  187–​8
in atrioventricular duplications, significance 187
block 203 chromosomal  14–​20 Edward syndrome
see also steroids (trisomy 18) 15, 19
dextroposition 176 electrocardiography 75
Di George syndrome  15, 16 E postnatal 277
diabetes mellitus, E:A wave morphology  208 Ellis-​van Creveld
maternal 42, 252 Ebstein’s syndrome 17
hypertrophic malformation  112–​14 embryology 28
cardiomyopathy 214 echocardiography 46 endocardial
transposition of the great advanced techniques  62 fibroelastosis 94,
arteries 147 communication with 216, 217
diagnosis 261 parents 52 epigenetic mechanisms  21
see also echocardiography; detailed scans  60 Eustachian valve, normal
investigations Doppler  48–​50 appearances 31
diaphragmatic hernia  177 colour Doppler  49, 50 EVC gene mutations  17
associated cardiac continuous wave examination,
lesions 44 Doppler 50 postnatal  276
dichorionic (DC) pulsed wave  48, 49 examination of parents  26
twins 242, 244 greyscale 2D image  48 exomphalos 44
284

284 INDEX

F genetic testing
amniocentesis 71
in aortic valve
stenosis 92, 93, 94
family history  25 chorionic villus sampling  71 ascites 233
indications for detailed chromosome tests  72 assessment and
cardiac scan  42, 43 fetal blood sampling  71 monitoring 238
fetal alcohol syndrome  10 molecular testing  73 associated cardiac
Fetal Anomaly Screening non-​invasive  74 lesions 44
Programme (FASP)  54–​8 postnatal 278 cardiovascular profile
aorta/​left ventricular gestational diabetes  8 score 210
­outflow tract  56 ‘golf balls’  222, 223 cerebral perfusion  272
four-​chamber view  55 great arteries fetal infections  254
lesions resulting in abnormal in heart block  203
abnormality 58 appearances 166 management 239
lesions detected using three-​vessel trachea pathophysiology 236
great artery views  58 view  170–​6 pericardial effusions  233
limitations 61 normal appearances  pleural effusions  232
pulmonary/​right ­ventricular 32–​8 skin oedema  234
outflow tract  56, 57 transposition of  144–​7 in supraventricular tachy-
situs/​laterality  54 congenitally cardia 194,
three-​vessel trachea corrected  148–​9  196–​7
view 56, 64 see also aorta; pulmonary in twin–​twin transfusion
abnormalities 68 arteries syndrome 246
normal appearances  66, 67 greyscale 2D hypertrophic cardiomyopathy
fetal blood sampling  71 echocardiography 48 (HCM) 214, 215
fetal cardiology growth retardation  21 hypoplastic left heart
limitations 4 syndrome  95–​7
role 2 cerebral perfusion  272
scope 3 H fetal intervention  265
fetal circulation  34–​6 haemangiomas 226 place of delivery  267
changes at birth  36, 37 heart block
physiological variations  36 first-​degree  200
fetal haemoglobin  34–​6 maternal anti-​Ro I
fetal intervention  265, 274 antibodies 202, ‘ice cream cone’
fibromas 226 203, 252–​8 appearance 217
first-​degree heart block  200 M-​mode in utero intervention  265
associated with maternal echocardiography 201 incidence of congenital heart
antibodies 203 second-​degree  200 disease 6, 40
flecainide third-​degree infections
in supraventricular (complete)  200–​3 fetal 254
tachycardia 195, 196 causes and maternal 10, 43
in ventricular associations 202 inferior vena cava,
tachycardia 198 prognosis 203 anomalies 108
fluorescence in situ treatment  202–​3 inlet VSDs  131–​4
­hybridization (FISH)  72 heart muscle disease  212 intermediate type atrio­
foramen ovale  33, 34, 35 see also cardiomyopathy ventricular septal
changes at birth  36 heart rate  186 defect 138
distinction from ASD  128 normal 55 interrupted aortic
screening examination  55 see also bradycardia; cardiac arch  100–​1
four-​chamber view  55 rhythm; tachycardia associated non-​cardiac
lesions resulting in heart size anomalies 19
abnormality 58 assessment 208, 209 intrauterine death
future pregnancies  268 heart:chest area ratio  208 risk factors  264
hemiazygous vein risk of  262–​3
G anomalies 108
heterotaxy 176
intrauterine growth
restriction 253
gene panel tests  73 His bundle tachycardia  193 invasive testing  71
genetic factors in history taking  24–​30 investigations
CHD 12, 14 postnatal 276 fetal
chromosomal Holt–​Oram electrocardiography 75
disorders  14–​20 syndrome 17, 276 fetal magnetic resonance
single gene hydrops 42, 232 imaging 76
disorders  16–​17 aetiology 237 genetic testing
 

INDEX 285

chromosome tests  72 coarctation of the non-​therapeutic drug

molecular genetic aorta  98–​100 exposure 10
testing 73 double aortic phenylketonuria 8
non-​invasive  74 arch  104–​10 therapeutic drug
invasive testing  71 interrupted aortic exposure  8–​14
see also echocardiography arch  100–​1 metabolic testing  278
irregular rhythms  172, 204 persistent fifth aortic microarray testing  72
see also cardiac rhythm arch 105 mitral atresia  90, 91
isomerism 176 right aortic mitral hypoplasia  90
left atrial isomerism  158 arch  101–​2, 103 mitral valve
cardiomyopathy 216 vascular rings  105 normal
interrupted IVC  atrioventricular junction appearances 31, 33
108 mitral atresia  90 regurgitation 208
right atrial isomerism  159 mitral hypoplasia  90 screening examination  55
Ivemark syndrome  159 classification 80 M-​mode echocardiography 
venoatrial junction 50, 51, 182, 183
left-​sided SVC  87, 88 atrial (supraventricular)
J partial anomalous ectopics 188
Jacobsen syndrome  16 ­pulmonary venous heart block  201
JAG1 gene mutations  17 drainage 84 supraventricular
junctional ectopic ­tachycardia total anomalous tachycardia 192
(JET) 193, 204 ­pulmonary venous ventricular ectopics  204
drainage  84–​7 moderator band, screening
ventriculo-​arterial junction examination 55
K aortic atresia  95 molecular genetic
karyoptyping 72 aortic stenosis  92 testing 73
karyotype abnormalities  43 aortic valve stenosis  92–​4 monoamniotic twins  244
Kleefstra syndrome  16 hypoplastic left heart monochorionic (MC)
syndrome  95–​7 twins 242, 244
lithium, maternal exposure  9 cardiac complications  245
L long QT syndromes fetal
lambda sign  243, 244 (LQTS)  197–​203 echocardiography 248
lamotrigine, maternal long VA tachycardias  193 twin–​twin transfusion syn-
exposure  9–​10 drome (TTTS)  246–​52
laterality, echocardiographic monozygotic (MZ)
identification 54 M twins 242
laterality disorders  158–​9 magnetic resonance imaging timing of division  242
left atrial isomerism  158 (MRI) 76 MRI  see magnetic resonance
cardiomyopathy 216 major aortopulmonary imaging
interrupted IVC  108 communicating branches multifocal atrial ectopic
left atrium (MAPCAs) 123 tachycardia 193, 204
abnormal appearances  maternal causes of fetal muscular VSDs  131–​4, 135
164 compromise myocardial performance
normal appearances  31 anti-​Ro antibodies  42, score (Tei index)  209
screening examination  55 202, 252–​3 myocarditis 212
left isomerism  176 cardiomyopathy 216, 217 see also cardiomyopathy
left ventricle anti-​SSA/​Ro myxomas 226
abnormal antibodies  252–​8
appearances  164–​70 diabetes mellitus  8,
morphological differences 42, 252 N
from right ventricle  32 association with TGA  147 neurodevelopment 270
normal appearances  31 hypertrophic cerebral perfusion
screening examination  55 cardiomyopathy 214 assessment 273
left ventricular out- intrauterine growth damage prevention/​
flow tract, screening restriction 253 limitation 274
examination 56 maternal history  24 haemodynamics 271
left-​sided anomalies of CHD 42 parental counselling  274
arterial maternal risk factors in specific cardiac
aberrant subclavian for CHD lesions 272
artery 102, 104 assisted reproduction  10 non-​cardiac anomalies,
aortopulmonary diabetes mellitus  8 ­association with
window 105, 106 infections 10 CHD  18, 19, 43, 44
286

286 INDEX

non-​steroidal anti-​ association with pulmonary valve, absent  see

inflammatory drugs teratoma 225 tetralogy with absent
(NSAIDs), maternal perimembranous pulmonary valve
­exposure  9–​15, VSDs  131–​4 pulmonary valve
42, 254–​5 persistent fifth aortic dysplasia 19
Noonan syndrome  16–​17, arch 105 pulmonary venous drainage,
19, 94 phenylketonuria, anomalous
hypertrophic maternal 8, 43 partial 84
cardiomyopathy 214 placental dysfunction  253 total  84–​7
normal anatomy pleural effusions  232 pulsed wave (PW)
cardiac connections  30 portal vein, absence of  108 Doppler 48, 49
echocardiographic features postnatal circulation  37 cardiac rhythm
atrial and atrioventricular postnatal evaluation assessment 182, 184
septa 32 autopsy examination  279
cardiac chambers  31 chromosome analysis  278
differences between right echocardiography 276 Q
and left ventricles  32 electrocardiography 277 quantitative fluorescence
great arteries  32–​8 genetic testing  278 polymerase chain
ventricular septum  32 history and ­reaction (QF-​PCR)  72
fetal cardiac position and examination 276 Quintero staging, twin–​
axis  30–​6 magnetic resonance twin transfusion
normal variations  78 imaging 277 syndrome 246
in cardiac rhythm  55 metabolic testing  278
atrial (supraventricular) radiology 277
ectopics  186–​8 PR interval  180 R
sinus rhythm  186 pre-​eclampsia, risk in radiology, postnatal  277
sinus tachycardia  186 hydrops 239 resource availability,
sudden transient sinus pregnancy history  25 effects on organ
bradycardia 186 pregnancy development 21
nuchal scan  228 management 260, 264 restrictive
nuchal translucency delivery 266 cardiomyopathy 216, 217
(NT) 42, 228 place of 267 retinoic acid, maternal
associated CHD risk  229 fetal intervention  265 exposure 10
management of increased future pregnancies  268 rhabdomyomas 224
measurements 230 preload, determining rheumatoid arthritis,
factors 236 maternal 202
premature delivery  264 right aortic arch  101–​2, 103
O prevention of CHD  20 right atrial isomerism  159
oedema 234 pulmonary arterial right atrium
see also hydrops anomalies 126 abnormal
ostium primum ASD  128 pulmonary arteries appearances 164
ostium secundum ASD  abnormal normal appearances  31
128 appearances 166 screening examination  55
outlet VSDs  131–​4 small 170 right isomerism  176
oxygen saturation, cerebral normal appearances  32–​8 right ventricle
arterial blood  271 screening abnormal
examination 56, 57 appearances 164
pulmonary atresia with double outlet  123
P intact ventricular septum morphological differences
parental examination  26 (PAIVS)  118–​20 from left ventricle  32
parental history  24–​30 four-​chamber view  119 normal appearances  31
of CHD 42 long-​axis view  119 screening examination  55
partial anomalous pul- pulmonary atresia with right ventricular ­outflow
monary venous drainage VSD 123 tract, screening
(pAPVD) 84 associated non-​cardiac examination 56, 57
partial atrioventricular septal anomalies 19 right-​sided anomalies
defect  136–​42 pulmonary hypoplasia/​ arterial 126
Patau syndrome (trisomy 18)  aplasia 177 atrioventricular junction
15, 19 pulmonary stenosis  Ebstein’s
paternal history  25 116–​17 malformation  112–1​ 4
of CHD 42 catheter intervention  tricuspid atresia 
pericardial effusions  208, 233 265 110–​11
 

INDEX 287

tricuspid valve dextroposition 176 anomalies 108

dysplasia  112–​14 Sjögren bilateral 87, 108
venoatrial junction  108, 109 syndrome  202, 252–​3 dilated 170
ventriculo-​arterial junction skin oedema  234 left-​sided  87, 88
double outlet right small heart, causes  165 supraventricular (atrial)
ventricle 123 sodium valproate, maternal ectopics (SVEs)  186
pulmonary atresia with exposure  9–​10 diagnosis 187, 188
intact ventricular steroids follow-​up  188
septum  118–​20 in atrioventricular management  187–​8
pulmonary atresia with block 202, 203 significance 187
VSD 123 in cardiomyopathy  218 supraventricular tachycardia
pulmonary in hydrops  239 (SVT)  190–​7
stenosis  116–​17 reduction of risk of heart classification
tetralogy of Fallot  120–​1 block 253 atrial flutter  191
tetralogy with absent stroke volume, determining atrioventricular
pulmonary valve  factors 236 nodal ­re-​entry
122–​8 structural tachycardia 193
abnormalities 78, 254 atrioventricular re-​entry
atrial septal defect tachycardia  190–​6
S (ASD) 128 junctional ectopic
screening examination  54–​8 atrioventricular septal tachycardia 193
aorta/​left ventricular defect  136–​8 long VA tachycardias  193
­outflow tract  56 classification multifocal atrial ectopic
four-​chamber view  55 abnormal vetriculoarterial tachycardia 193
lesions resulting in connections 81 M-​mode
abnormality 58 left-​sided anomalies  80 echocardiography 192
lesions detected using miscellaneous lesions  81 postnatal
great artery views  58 right-​sided anomalies  80 management 197
limitations 61 septal anomalies  80–​6 prognosis  196–​7
pulmonary/​right ventricular double inlet treatment  193–​6
outflow tract  56, 57 ventricle  154–​60 oral digoxin  194
situs/​laterality  54 laterality disorders  158–​64 oral flecainide  195
three-​vessel trachea left-​sided surgical outcome
view 56, 64 arterial figures  262–​3
abnormalities 68 abnormalities  98–1​ 05 sympathomimetics
normal atrioventricular in atrioventricular
appearances 66, 67 junction 90, 91 block 202, 203
second-​degree heart venoatrial junction  84–​7 in hydrops  239
block 200 ventriculo-​arterial systemic lupus erythematosus 
associated with maternal junction  92–​7 202, 217, 252–​3
antibodies 203 right-​sided
M-​mode arterial anomalies  126
echocardiography 201 atrioventricular T
septal anomalies junction  110–​14 tachycardia 172
atrial septal defect venoatrial general evaluation  190
(ASD) 128 junction 108, 109 sinus 186
atrioventricular septal ventriculo-​arterial supraventricular
defect  136–​8 junction  116–​23 (SVT)  190–​7
classification  80–​6 ventricular septal defect classification  190–​3
ventricular septal defect (VSD)  130–​4 postnatal
(VSD)  130–​4 ventriculo-​arterial management 197
single gene disorders connection prognosis  196–​7
non-​syndromic  17 anomalies 142 treatment  193–​6
syndromic  16–​17 congenitally corrected ventricular  197–​8
sinus bradycardia  200 transposition of the Tei index  209
sinus node  180 great arteries  148–​9 teratomas 225
sinus rhythm  186 transposition of the great terbutaline 202
sinus tachycardia  186 arteries  144–​7 tetralogy of Fallot  120–​1
sinus venosus type ASD  128 truncus arteriosus  150–​1 associated non-​cardiac
situs ambiguus  158–​9 subclavian artery, anomalies 19
situs inversus  158–​9, 176 aberrant 102, 104 cerebral perfusion  272
situs solitus  54, 174 superior vena cava four-​chamber view  122
28

288 INDEX

tetralogy with absent tumours  220–​6 venous duct  see ductus

pulmonary valve  echogenic foci (‘golf balls’)  venosus
122–​8 222, 223 ventricular dysfunction,
third-​degree (complete) fibromas 226 causes 236
heart block  200–​3, 253 haemangiomas 226 ventricular ectopics 
causes and myxomas 226 204
associations 202 rhabdomyomas 224 ventricular septal defect
M-​mode teratomas 225 (VSD)  130–​4
echocardiography  Turner syndrome  15, associated non-​cardiac
201 19, 94 anomalies 19, 134
prognosis 203 coarctation of the classification 81
treatment  202–​3 aorta 100 inlet 132
three-​vessel trachea (3VT) twins 242 muscular 135
view 56, 64 antenatal identification of perimembranous 132
abnormalities  68, 170–​6 twin type  244 pulmonary atresia with
normal chorionicity VSD 123
appearances 66, 67 determination 243 associated non-​cardiac
thymic:thoracic fetal echocardiography anomalies 19
(T:T) ratio 66, 67 in MC twin subaortic 133
thymus pregnancies 248 in tetralogy of
causes of reduced monochorionic, cardiac Fallot 120, 122
size 66 complications 245 ventricular septum
size assessment  66 risk of CHD  42 anatomy  130–​1
total anomalous twin–​twin transfusion normal appearances 
pulmonary venous syndrome (TTTS)  32
drainage (TAPVD)  242, 246–​52 ventricular tachycardia
84–​7 cardiac (VT)  197–​8, 204
tracheo-​oesophageal complications 245 management  197–​203
fistula 44 hypertrophic cardiomy- prognosis 198
transposition of the great opathy  ventriculo-​­arterial
arteries (TGA)  144–​7 215 connection
cerebral perfusion  272 Quintero staging  246 anomalies 142
congenitally congenitally
corrected  148–​9
place of delivery  267 U corrected ­transposition
of the great
tricuspid atresia  110–​11 umbilical vein arteries  148–​9
tricuspid valve anomalies 108 transposition of the great
normal upper limb anomalies  44 arteries  144–​7
appearances 31, 33 truncus arteriosus 
in PAIVS  118
regurgitation 208 V 150–​1
ventriculo-​arterial
screening vascular rings  105 connections, normal
examination 55 vascular tumours  43 anatomy 30
tricuspid valve venoatrial anomalies viral infections  254
dysplasia  112–​14 classification 80 cardiomyopathy 216
trisomies 14, 15, 19 left-​sided
association with left-​sided SVC  87, 88
­atrioventricular septal partial anomalous W
defect 138 ­pulmonary Wenckebach
association with tetralogy venous drainage phenomenon 200
of Fallot  121 (pAPVD) 84 whole exome/​whole
association with total anomalous genome sequencing  73
VSD 134 ­pulmonary venous Williams syndrome  15,
truncus arteriosus drainage (pAPVD)  16, 276
(common arterial trunk)  84–​7 Wolff–​Parkinson– ​White
150–​1 right-​sided  108, 109 syndrome  191, 276
tuberous sclerosis  venoatrial connections,
17, 224 normal anatomy  30