Acyanotic Congenital Heart

Disease
Disiapkan & Dipresentasikan Oleh :
dr. Teuku Thoriq S

Pembimbing :
dr. Zainal Safri, SpPD(K), SpJP(K)
 OUTLINE
Acyanotic
congenital
heart
disease

Obstructive
L to R shunt
lession

Congenital Congenital
ASD VSD PDA CoA
AS/LVOTO PS/RVOTO

PFO
 Ingat
• Embriologi Jantung • Anamnesis
• Sirkulasi janin & bayi baru lahir - Riwayat kehamilan dan Persalinan
- Riwayat Keluarga

• Temuan Klinis
- Inspeksi
- Auskultasi
- Tekanan Darah
 Normal vs Abnormal Pemeriksaan Jantung pada neonatus

Normal Abnormal
• HR Cepat • Sianosis
• Desaturasi ringan arteri • Denyut tidak teraba pada ekstremitas
• RV Hyperactive bagian bawah
• Single S2 • RR> 60
• Ejection Click • Hepatomegali
• Innocent Murmur • Murmur
• Denyut terpalpasi • Tidak ada murmur tidak menyingkirkan
adanya CHD
• Irregular HR
L to R shunt (ASD, VSD & PDA)
SECTION 1
 Left to Right Shunt
Ukuran dan Lokasi defek

Meningkatnya Tekaan
Left to Right Shunt
daeah Pulmonal
Pulmonary Vascular
Resistance

• Exercise intolerance
• Recurrent respiratory tract infection
• Dyspnea
• Failure to thrive
• Heart Failure
VSD
Insidensi Etiologi
• Ventricular Septal Defect (VSD) • Banyak faktor yaang menyebabkan
merupakan kelainan jantung bawaan terjadinya CHD seperti genetik,
dimana tidak sempurnanya penutupan maupun interaksi lingkungan
dinding septum intraventrikular • Biasanya terjadi pada sindroma
• Angka kejadian menurut studi kromosom ( trisomi 13, trisomi 18,
echocardiografi 5 – 50 per 1000 trisomi 21 ataupun yang lainnya)
kelahiran • Walaupun pada kebanyakan pasien
• Sekitar 20% pasien mengalami CHD (>95%) defek terjadi tidak
• Biasanya terjadi pada perempuan berhubungan dengan abnormalitas
kromosom
• Lokasi Septal Defect ( menurut Soto Cristal
Classification)
- Perimembranous ( Membranous/
Infracristal) 70-80%
- Muscular 5 – 20%
Central
Apical Trabecular
Marginal – sepanjang RV Septal
junction
Swiss Cheese Septum
- Inlet / AV canal type 5-8%
- Supracristal ( Outlet/conal/ Ventricular septum viewed from the right ventricular (RV) side, Anatomic
locations of various VSDs and landmarks, viewed with the RV free wall
infundibular/subpulmonary/doubly comitted removed. a, outlet (infundibular) defect; b, papillary muscle of the conus; c,
perimembranous defect; d, marginal muscular defect; e, central muscular
subarterial) : 5-7% defect; f, inlet defect; g, apical muscular defect
From Graham TP Jr, Bender HW, Spach MS: Ventricular septal defect. In
Adams FH, Emmanouilides GC, Riemenschneider TA (eds): Moss' Heart
Disease in Infants, Children and Adolescents, 4th ed. Baltimore, Williams and
Wilkins, 1989
Patofisiologi
 Gejala Klinis
• Small VSD  asimtomatik ( tumbuh kembang normal)
• Moderate – Large VSD
- DELAYED tumbuh kembang, gagal berkembang
- Gejala awal gagal jantung (2-8 minggu)
- takipnea, pola makn yg buruk, menurunnya aktivitas
- sering terjadi infeksi saluran pernafasan bag. Bawah
• Pulmonary Hypertention yg terjadi terus menerus  rwyt Sianosis, ↓
aktivitas
- PVOD dapat terjadi lebih awal di 6-12 bulan
- R to L Shunt s/d Dewasa
 Pemeriksaan Fisik

SMALL VSD LARGE VSD

- Best heard : LLSB - Classix Holosystolic murmur in LLSB
- Holosystolic Murmur - Systolic thrill in LLSB
- Small defct (great turbulance) → - APEX :
loudest murmur - Mid-diastolic rumble (← relative MS ← increase
- Systolic thrill in LLSB flow accros MV)
- S2 : splits normally - S3 : RV filling
- P2 : normal intensity - S2 : narrowly split (loud and single in PVOD)
- P2 : accentuated intensity
- Ejection click in ULSB (← PH)
 • Small VSD  normal
EKG •
•
Moderate VSD  LVH dan LAH
Large VSD  Hipertrofi biventrikular, dan / LAH
• Jika berkembang mnjadi PVOD  RVH

Tracing from a 3-month-old infant with a large ventricular

septal defect, patent ductus arteriosus, and pulmonary
hypertension. The tracing shows biventricular hypertrophy
with left dominance. Note that V2 and V4 are in ½
standardization.
 Rontgen
• Bergantung pada LR
shunt :
- Cardiomegali
- ↑ tanda vaskular paru
On PVOD :
- Main PA and the hilar PAs enlarge noticebly,
but Peripheral lung fields are Ischemic
- Heart size usally normal
 Management
With Heart Failure: Indication to closure
1. HF treatment (diuretics: regardless of size if:
Without HF:
furosemid, spironolakton; aortic valve prolapse &
1. Observe
vasodilator: captopril, infundibular PS
2. Lookout for: aortic
ramipril, lisinopril,
valve proplapse, AR,
valsartan)
IE, infundibular PS,
2. If cannot be treated 
PH, spontaneous Special attention!
surgical closure
closure Pulmonary Hypertension:
3. If can be treated 
1. Surgical risk
observe for 3 months
2. PH without PVD  closure
without cath
Spontaneous closure: 3. If PVD  echo study & right
1. Perimembranous & muscular heart cath
closes/decreases in age 5-7
2. MRI in age 5-7 if shunt persists
 Atrial Septal Defect
Normal Atrial Septal Anatomy
 Patofisiologi
• Volume pada shunt bergantung dgn
RV/LV compliance, Ukuran pada defek,
tekanan LA/RA
• Pada bayibaru lahir : RV tebal,kaku, tidak
cukup utk mengembang  jumlah yg
minimal utk L to R shunting
• Pada minggu pertama setelah lahir, PVR , RV > compliance  Left to right shunting  volume
overload pada RA,RV dan sirkulasi paru berlangsung lama
• Berkurangnya compliance dari LV atau meningkatnya Tekanan pada LA ( hipertensi, ischaemic heart
disease, cardiomyopathy, Ao&MV Disease) meningkatnya L to R shunt
• Berkurangnya compliance RV ( Pulmo stenosis, PAH, other RV disease) atau tricuspid valve disease
 menurunnya L-R shuny atau bahkan R-L shunt
 PRIMUM SECUNDUM SINUS VENOSUS CORONARY SINUS

INCIDENCE 20-25% 70-75% 5-10% <1%

DEFECT

SHUNTING

PATHOLOGY OSTIUM PRIMUM DOES OSTIUM SECUNDUM > POSTERIOR AND INFERIOR AND ANTERIOR
NOT FUSE WITH SEPTUM SECUNDUM SUPERIOR TO FOSSA FOSSA OVALIS 
ENDOCARDIAL CUSHION OVALIS UNROOFED
ASSOCIATIO AV VALVE DEFECT MVP (70%), PAPVR, SUPERIOR AND INFERIOR
N WITH (MITRAL), HEART-HAND TYPE
DOWN SYNDROME SYNDROME
I.E  MOST FREQUENT
 Tanda dan Gejala

Pola makan yg buruk,

kelelahan, dispnea, Takipnea, Sianosis,
tumbuh kembang yg Hepatomegali
buruk, URTI - S2 : Widely and fixed splitting
- 2-3/6 systolic ejection
murmur , cressendo-
Kemungkinan terjadi decresendo (because ↑ blood
URTI, HF, tumbuh
atrial aritmia (10-20% flow across pulmonary valve)
kembang yg buruk 
dibawah 40th)  - Large L-R shunt : mid-diastolic
JARANG rumble (↑ flow across tricuspid
PENTING
valve)
 Diagnostik
EKG : RAD, mild RVH, RAE, RBBB with rsR’ di V1.
Ostium primum : LAD
Echocardiography
diagnostic, position, size of the defect
A siginificant left to right atrial shunt
RV & RA enlargement, RV Volume overload, dilated PA
Doppler  magnitude and direction of shunt flow, estimation of RV
Systolic pressure

• In overweight older
children and
adolescents → TEE
 Treatment
1. 2.

3. 4.
ASD dengan SMALL shunt ASD dengan BIG shunt

• Echo meragukan  MRI to determine • Resiko HF /PH  meningkat

FR (Qq/Qs) • Intervensi segera
• Intervensi dengan tidak operasi (dgn • Medikasi Pre –intervensi :
kriteria) ASD Sekundum atau Operasi Diuretik,vasodalator, digoksin jika AF
dapat dilakukan pada semua ASD

HF No HF
• Diuretik ( Furosemide,spironolakton) • Tunda Intervensi s/d pre=school (3-4th)
• Vasodilator
• Digoksin jika AF
• Jika HF bisa diobati  tunda intervensi >
1thun
• Jika tidak bisa  intervensi segera
Anak / Remaja dengan PH Anak / Remaja tanpa PH
• PH membutuhkan penanganan yg hati- • Intervensi  Preschool
hati • Cath if inconclusive with echo
• Jika tidak terdapat tanda dari PVD  • Jika terdapat small LV  MRI  ASD
Penutupan ASD ( ASD Closure) tanpa Closure with / without MV repair , with
cath / without ASD
• Jika susp PVD ( URTI menurun, • Small LV + MS  treatment small LV
sianosis, terjadi bidrectional shunt, • ECMO direkomendasikan post op
PAP > 75% AP  membutuhkan PARI
utk assessment , dan vascular
reactivity
PDA
• Ductus Arteriosus
• Terhubungnya antara Arteri paru
kiri dengan Aorta desenden ( 5-
10 mm dari distal menuju
pangkal arteri subclavia kiri
• 1:2500-5000 kelahiran
• Faktor resiko : Infeksi Rubella,
prematuritas,lahir pada
ketinggian ( less oxygen)
 • Setelah kelahiran : kenaikan darah
Patofisiologi teroksigenasi secara tiba2, penurunan
prostaglandin  kostriksi duktus
intima mengalami proliferasi dan fibrosis
 penutupan permanent
• Patent ductus arteriosus (PDA) : terjadi
kegaglan penutupan ductus tepat setelah
bayi baru lahir
• Shunt bergantung pada :
Diameter,panjang, dan PVR ( in large PDA)
• Gagal jantung kiri  akan berkembang
mnjadi gagal jantung kanan jika terdapat
PVD
• Eisenmenger  reversal shunt 
cyanosis
 Patofiasiologi
Small Moderate-large Large

• Minimal shuntung  • Meningkatnya flow • Kardiomegali  LV

minimal pembesaran  pembesaran pada dan LA overload 
LV LV, LA,PA LVH dan LAH
• Shunting terjadi pada • LVH  dapat • Large Shunting  PH
saat sistole diastole menyebabkan dan RVH
 continous murmur diastolic rumble • Jika tdk tertangani 
Eisenmenger 
Murmur akan hilang
• Sianosis pada
setengah bagian
tubuh
- Asymptomatic → small ductus - Continuous murmur (“machinery”
murmur) at 24-72 h, at ULSB, radiates
- A large-shunt PDA : LRTI, poor weight down the left side of the sternum and
gain, atelectasis, and CHF (tachypnea), into the back
DOE
- A systolic thrill
- Eisenmenger’s syndrome
- Diastolic rumble is audible at the
cardiac apex → moderate or large
ductal shunts
-Bounding peripheral pulses with wide
pulse pressure
 Diagnostic Work-Up
ECG X-Ray
• Similar with VSD. • Cardiomegaly, with enlargement of
• LA, LV, and ascending aorta in
• LVH with small PDA moderate- to large-shunt PDA
• BVH in large PDA. • Pulmonary vascular markings are
increased.

Echocardiography
• Provides size and
shunting of the ductus,
dimensions of LA,LV

Moss and Adams’ Heart Disease in Infants, Children, and Adolescents. 7 th edition
Myung Park. Pediatric Cardiology for Practitiioners. 5 th edition
 Management
Baby and neonates With Heart
<10 days premature baby w/HF:
Failure: Mature baby w/HF:
1. HF treatment
1. Treat KU 1. HF treatment
2. Ibuprofen (10mg/kg & 20
2. Hypoglycemia and 2. If stable  ligation in 12-
mg/kg p 24 & 48 h) or
hypocalcemia in premature 16 wk
paracetamol
3. HF treatment  diuretics, 3. If cannot be treated 
3. Can be repeated once if not
vasodilator (avoid in surgical ligation
closed
premature)

Mature baby w/o HF: Child/adult with PH:

Elective closure after 12-16 1. Closure is not recommended
wk without cath Child or adult without PH: unless PH reactive
Surgical or non-surgical ligation 2. If shunt is still left to right 
without cath urgent closure
3. If Bidirectional  RHC to PARi
and vascular reactivity
 Obstruction Lession
(Cong.AS/LVOTO, Cong.PS/RVOTO & CoA)
Section 2
 Congenital AS / LVOTO
• Prevalensi 5 dari 10.000 kelahiran F : M = • Signs: narrow pulse pressure, systolic
4:1 thrill in URSB, HS: ESC, Split S2
• Klasifikasi : stenosis bisa terdapat di (normal/narrow/paradoxical), MSM in
Valvular (71%), subvalvular (23%), aortic aus area, EDM (if there is
supravalvular (6%) concominant AR)
• Patofisiologi: LVH dan post-stenotic dilatasi – Supravalvular: P right arm > P left arm
• Gejala klinis : (Coanda effect)
- Mild AS : asimtomatik & intolerasi aktivitas • Diagnostic studies:
- Mod to severe AS : Nyeri dada pada saat – ECG: normal, LVH (strain pattern)
beraktivitas, mudah lelah, dapat pingsan – CXR: normal size/cardiomegaly,
- Critical AS: respiratory distress dapat pulmonary venous congestion, dilated Ao
berkembang menjadi edema paru – Echo
 Congenital AS/LVOTO
• Natural history:
– Chest pain, syncope, and even
sudden death (1%–2% of cases)
– Heart failure
– Calcification of bicuspid aortic
valve ( AR & AS)
• Treatment:
– Medical: positive inotropic,
diuretics, PGE1, ballloon
valvuloplasty
– Surgical: Ross & Ross-Kono
 Congenital PS/LVOTO
• Prevalensi : 8%-12% pada seluruh Congenital heart • Signs: RV tap & systolic thrill in URSB,
defect prominent a wave in JVP tracing; HS: ESC
• Klasifikasi : dapat terjadi di valvular, subvalvular (pulmonic), split S2 (wide), soft S2, ESM at
(infundibular), supravalvular atau dalam rongga pulmonal aus area.
RV (daouble chamber RV) • Diagnostic studies:
• Kelainan jantung yang dapat terkait : ToF – ECG: RAD, RVH (with strain)
• Patofisiologi : RVH, RVF – CXR: normal size/cardiomegaly, prominent PA
• Gejala klinis : segment (post stenotic dilatation), pulmonary
- Asimtomatik (Mild PS) markings (normal/decreased)
– Echocardiography
- Sesak nafas saat beraktivitas dan mudah lelah
(Moderate PS) • Natural history:
- Gagal jantung atau nyeri dada saat aktivitas – Mild PS: status quo valve, patients do well
(severe PS) – Moderate to severe PS: CHF, sudden death
- Pola makan sulit, takipnea, dan sianosis (Critical PS) – Critical PS: die
 Congenital PS/LVOTO

• Treatment:
– Medical:
• Critical PS: preserve ductal
patency (PGE1, ductal stenting)
or make artifical systemic-
pulmonary shunt
• Ballloon valvuloplasty
• Exercise restriction in severe PS
(Doppler gradient >70 mm Hg)
– Surgical: Pulmonal valvotomy
 Coarctation Aorta (CoA)
• Definisi : Penyempitan pada lumen Aorta • Pathophysiology:
dan dapat menyebabkan obstruksi aliran – Increased afterload  LVH
darah
– Increased flow in blood vessels proximal
• Prevalensi : 1 dari 6000 kelahiran F:M = 1:2
to narrowing  collaterals generation
• Kelainan jantung terkait : Bicuspid Ao, TGA,
– Decreased flow in blood vessels distal to
DORV
narrowing
• Klasifikasi :
• Symptoms:
- Asimtomatik / postductal/ tipe dewasa
– Asymptomatic/postductal/adult type:
- Simtomatik / preductal / tipe infantil
exercise intolerance due to leg pain
• Patogenesis : “ No Flow, No Grow”
– Symptomatic/preductal/infantile type:
Jaringan muskular ektopik, diffuse aortic HF
disease
 Coarctation Aorta (CoA)
Tanda : • Diagnostic studies:
- Asimtomatik / postductal / adult type : – Asymptomatic/postductal/adult type:
normal tumbuh kembang, differential • ECG: LCH, LAD
hypertention, HS : siystolic thrill in SSN, • CXR: normal szie or slight enlargement,
Split S2 (normal), accentuated S2, ESC in “3 sign”
the apex(if there is bicuspid aortic valve) or • Echo, MRI, Cardiac cath
URSB, EDM (if there is AR due to bicuspid – Symptomatic/preductal/infantile
aortic valve)
type:
- Simtomatik/ preductal/ infalntile type :
• ECG: RAD, RVH, RBBB
differential sianosis, gagal sirkulasi tubuh
• CXR: cardiomegaly, pulmonary efema,
bag. Bawah, denyut nadi perifer teraba pulmonary venous congestion
lemah, HS : loud and singlw S2,S3 gallop
• Echo, MRI, Cardiac cath
• Natural history: • Treatment:
– Asymptomatic/postductal/ad – Asymptomatic/postductal/ad
ult type: LV failure, aortic ult type:
rupture, ICH, hypertensive • Medical: balloon angioplasty
encephalopathy, HHD • Surgery
– Symptomatic/preductal/infan – Symptomatic/preductal/infan
tile type: CHF in 3 months of tile type:
age, renal shutdown • Medical: PGE1; (+) inotropic,
diuretics, oxygen; metabolic
acid; baloon angioplasty
• Surgery
 Summary
L TO R SHUNT OBSTRUCTIVE

Increased pulmonary blood flow  URTI history, Ejection murmur, respective ventricular hypertrophy,
Risk to Eisenmenger syndrome post stenotic dilatatio

ASD VSD PDA LVOTO RVOTO CoA

RA, RV, PA Volume overload to LA, LV, PA LVH  normal RVH  normal LVH or RVH
overload  CO CO
normal LA
Dilated RV Size of the Size of the Post stenotic dilatation if Post stenotic
defect defect semilunar valve aortic
dilatation
Eisenmenger: Eisenmenger: Eisenmenger: May acc. by
30 to 40 years as early as 2 lower bicuspid aortic
of age years of age extremities valves,
 References
• Lilly LS. Pathophysiology of heart diseases. 5th ed. Philadelphia: LWW; 2011
• Park MK. Park’s pediatric cardiology for practitioners. 6th ed. Philadelphia:
Elsevier; 2014
• Saddler TW. Langman’s medical embriology. 13th ed. New York: LWW; 2015.
• Katz AM. Physiology of the heart. 5th ed. Philadelphia: LWW; 2011
• Klabunde RE. Cardiovascular physiology concepts. 2nd ed. Philadelphia:
LWW; 2012
• Levick JR. An introduction to cardiovascular physiology. 5th ed. New York:
CRC Press; 2010
 Thank You

“The more I know, The more I can forget“