Atrial Septal Defects ( ASD)

Atrial septal defects (ASDs ) can occur in any portion

of the atrial septum —secundum , primum , or sinus
venosus —depending on which embryonic septal
structure has failed to develop normally.
Isolated secundum ASDs account for approximately
7% of congenital heart defects. The majority of cases
of ASD are sporadic; autosomal dominant inheritance
does occur as part of the Holt-Oram syndrome
(hypoplastic or absent thumbs, radii, triphalangism,
phocomelia, first-degree heart block, ASD) or in
families with both secundum ASD and heart block
An isolated valve-incompetent patent foramen
ovale (PFO) is a common echocardiographic
finding during infancy. It is usually of no
hemodynamic significance and is not considered
an ASD; a PFO may play an important role if
other structural heart defects are present.
 Ostium Secundum Defect:

An ostium secundum defect in the region of the

fossa ovalis is the most common form of ASD and
is associated with structurally normal
atrioventricular (AV) valves. Females outnumber
males 3 : 1 in incidence.
 Pathophysiology
The degree of left-to-right shunting depends on
the size of the defect, the relative compliance of
the right and left ventricles, and the relative
vascular resistance in the pulmonary and systemic
circulations. In large defects, a considerable shunt
of oxygenated blood flows from the left to the
right atrium. This blood is added to the usual
venous return to the right atrium and is pumped
by the right ventricle to the lungs. With large
defects, the ratio of pulmonary-to systemic blood
flow (Qp:Qs) is usually between 2 : 1 and 4 : 1.
The paucity of symptoms in infants with ASDs is
related to the structure of the right ventricle in
early life, when its muscular wall is thick and less
compliant, thus limiting the left-to-right shunt.
As the infant becomes older and pulmonary
vascular resistance (PVR) drops, the right
ventricular (RV) wall becomes thinner, and the
left-to-right shunt across the ASD increases
The increased blood flow through the right side
of the heart results in enlargement of the right
atrium and ventricle and dilation of the
pulmonary artery. The left atrium may also be
enlarged as the increased pulmonary blood flow
returns to the left atrium, but the left ventricle
and aorta are normal in size. PVR remains low
throughout childhood, although it may begin to
increase in adulthood and may eventually result
in reversal of the shunt and clinical cyanosis.
Clinical Manifestations:
A child with an ostium secundum ASD is most often
asymptomatic; the lesion is often discovered inadvertently
during physical examination. Even an extremely large
secundum ASD rarely produces clinically evident heart
failure in childhood. On closer evaluation, however,
younger children may show subtle failure to thrive, and
older children may have varying degrees of exercise
intolerance.
Examination of the chest may reveal a mild left precordial
bulge. An RV systolic lift may be palpable at the left
sternal border. Sometimes a pulmonic ejection click can
be heard. In most patients with an ASD, the characteristic
finding is that the second heart sound (S2 ) is widely split
and fixed in its splitting during all phases of respiration.
A systolic ejection murmur is heard, and best heard at
the left middle and upper sternal border. It is
produced by the increased flow across the RV outflow
tract into the pulmonary artery.
A short, rumbling mid-diastolic murmur produced by
the increased volume of blood flow across the
tricuspid valve is often audible at the lower left sternal
border. This finding, which may be subtle
and is heard best with the bell of the stethoscope,
usually indicates a Qp:Qs ratio of at least 2 : 1.
 Diagnosis
1. CXR: varying degrees of enlargement of the right ventricle
and atrium, depending on the size of the shunt. The
pulmonary artery is enlarged, and pulmonary vascularity is
increased. These signs vary and may not be conspicuous in
mild cases. Cardiac enlargement is often best appreciated on
the lateral view because the right ventricle protrudes
anteriorly as its volume increases.
2. ECG: shows RV volume overload: the QRS axis may be
normal or exhibit right axis deviation, and a minor RV
conduction delay (rsRʹ pattern in the right precordial leads)
may be present. Right ventricular hypertrophy would be
unusual in the absence of pulmonary
hypertension or other lesions (e.g., valvar pulmonic
stenosis).
3. The location and size of the ASD are readily
appreciated by two-dimensional (2D) scanning.
The shunt is confirmed by pulsed and color flow
Doppler.
4. diagnostic catheterization: before repair, If
pulmonary vascular disease is suspected.
 Treatment
Transcatheter device or surgical closure is advised for all
symptomatic patients, as well as for asymptomatic patients with
Qp : Qs ratio of at least 2 : 1 and those with RV enlargement. The
timing for elective closure is usually after the 1st yr of life and
before entry into school. Closure carried out at open heart
surgery is associated with a mortality rate of <1%. Repair is
preferred during early childhood because surgical mortality and
morbidity are significantly greater in adulthood; the long-term
risk of arrhythmia caused by chronic atrial dilation is also greater
after ASD repair in adults.
For most patients, the procedure of choice is percutaneous
catheter device closure using an atrial septal occlusion device,
implanted transvenously in the cardiac catheterization laboratory
The results are excellent, and patients are usually discharged
from the hospital the following day.
Atrioventricular Septal Defects(Ostium Primum and
Atrioventricular Canal or Endocardial Cushion Defects)

It is situated in the lower portion of the atrial

septum and overlies the mitral and tricuspid
valves which are often abnormal resulting in
insufficiency (especially the mitral).
In Atrioventricular (AV) Canal (Septal,
Endocardial Cushion defect:
consists of a defect of the AV septum and
contiguous atrial and ventricular septal defects
with a common AV valve. The severity of the AV
valve abnormality varies considerably. In the
complete form of AV septal defect, a single AV
valve is common to both ventricles and consists
of an anterior and a posterior bridging leaflet
related to the ventricular septum, with a lateral
leaflet in each ventricle. Complete AV septal
defect is common in children with Down
syndrome
 Pathophysiology
The basic abnormality in patients with ostium
primum defects is the combination of a left-to-
right shunt across the atrial defect and mitral (or
occasionally tricuspid) insufficiency. The shunt is
usually moderate to large, the degree of mitral
insufficiency is generally mild to moderate, and
pulmonary artery pressure(PAP) is typically
normal or only mildly increased. The physiology
of this lesion is therefore similar to that of an
ostium secundum ASD.
In complete AV septal defects, left-to-right shunting
occurs at both the atrial and the ventricular level.
Additional shunting may occur directly from the left
ventricle to the right atrium (known as a Gerbode
shunt ) because of absence of the AV septum.
Pulmonary hypertension and an early tendency
toincrease PVR are common. AV valvular insufficiency,
which may be moderate to severe, further increases
the volume load on one or both ventricles. If the
defect is large enough, some right-to-left shunting
may also occur at the atrial and ventricular levels and
lead to mild arterial desaturation. With time,
progressive pulmonary vascular disease increases the
right-to-left shunt so that clinical cyanosis develops
(Eisenmenger physiology)
 Clinical Manifestations
Many children with ostium primum defects are
asymptomatic, and the anomaly is discovered
during a general physical examination. In
patients with moderate shunts and mild mitral
insufficiency, the physical signs are similar to
those of the secundum ASD, but with an
additional apical holosystolic murmur caused by
mitral insufficiency.
A history of exercise intolerance, easy fatigability, and
recurrent pneumonia may be obtained, especially in
infants with large left-to-right shunts and severe
mitral insufficiency. In these patients, cardiac
enlargement is moderate or marked, and the
precordium is hyperdynamic. Auscultatory signs
produced by the left-to-right shunt include a normal
or accentuated first heart sound (S1); wide, fixed
splitting of S2; a pulmonary systolic ejection murmur
sometimes preceded by a click; and a low-pitched,
mid-diastolic rumbling murmur at the lower left
sternal edge or apex, or both, as a result of increased
flow through the AV valves. Mitral insufficiency may
be manifested by a harsh (occasionally very high-
pitched) apical holosystolic murmur that radiates to
the left axilla.
With complete AV septal defects, heart
failure and intercurrent pulmonary infection
usually appear in infancy. The liver is
enlarged, and the infant often develops
feeding intolerance and failure to thrive.
Cardiac enlargement is moderate to marked,
and a systolic thrill is frequently palpable at
the lower left sternal border. A precordial
bulge and lift may be present as well. S1 is
normal or accentuated. S2is widely split if
the pulmonary flow is massive.
 Diagnosis
Chest radiographs of children with complete AV
septal defects often show moderate to severe
cardiac enlargement caused by the prominence of
both ventricles and atria. The pulmonary artery is
large, and pulmonary vascularity is increased.
The echocardiogram is diagnostic and shows signs
of RV enlargement . There is encroachment of the
mitral valve into the left ventricular outflow tract;
the abnormally low position of the AV valves
results in a “gooseneck” deformity of the LVOT.
Cardiac catheterization and angiocardiography is
rarely required to confirm the diagnosis unless
pulmonary vascular disease is suspected, as
when diagnosis has been delayed beyond early
infancy, especially in patients with Down
syndrome in whom the development of
pulmonary vascular disease may be more
rapid.
 Treatment
Most patients with ostium primum defects and minimal
AV valve involvement are asymptomatic or have only
minor, non progressive symptoms until they reach the
3rd or 4th decade of life, similar to the course of patients
with secundum ASDs.
Ostium primum defects are approached surgically from an
incision in the right atrium. Surgical treatment of
complete AV septal defects is more complex, although
highly successful.
Because of the risk of pulmonary vascular disease
developing as early as 6-12 mo of age, surgical
intervention must be performed during infancy