PENYAKIT JANTUNG

BAWAAN
Dr. Didik H, SpA(K)
Pediatric Cardiologist

Bagian Ilmu Kesehatan Anak FKUA/RS M Djamil Padang

Bagian Kardiologi dan Kedokteran Vaskular RS M Djamil Padang
 Tujuan pembelajaran

• Umum : mampu mengidentifikasi /

mengelola PJB dengan pendekatan
dokter keluarga

• Khusus : mampu menjelaskan

• Epidemiologi
• Etiologi / faktor risiko
• Patofisiologi
• Pemeriksaan penunjang
• Prinsip diagnosis / Diagnosis banding
• Penatalaksanaan / rujukan
• Komplikasi / prognosis

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Acyanotic defects of CHD

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Cyanotic defects of CHD

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 Epidemiologi

• PJB 0,8-1% dari bayi lahir hidup

• 75% merupakan PJB non-sianotik

PJB non-sianotik
• VSD : 20% dari semua PJB
• PDA : 7% dari semua PJB
• ASD : 8% dari semua PJB

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 Cont…

• PJB sianotik (25%)

– TGA (transposition of Great Arteries) : 5%
dari seluruh PJB. ( Lk : Pr = 3:1 )
– TOF (tetralogy of Fallot) : 10% ( PJB
sianotik terbanyak)
– Lain-lain ( Total anomalous PV return,
Tricuspid atresia, Pulmonal atresia, dll )
berkisar 1-3%

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Etiologi / Faktor risiko

• Sebagian besar kasus tidak

diketahui
• Obat-obatan
• Penyakit ibu
• Pajanan sinar X
• Genetik / sindrom tertentu
• Multifaktorial

Etiologi ???
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 Chromosomal aberrations

• Trisomy 13 syndrome (Patau’s syndrome) : 25% CHD : VSD, PDA, ASD

• Trisomy 18 ( Edward’s syndrome) : 90% CHD : VSD, PDA, dextrocardia
• Trisomy 21 ( Down syndrome) : 50% CHD : ECD , VSD
• Turner’s syndrome (XO) : 35% CHD : CoA, AS, ASD
• Klinefelter’s variant (XXXXY) : 15% CHD : PDA , ASD

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 Hemodinamik PJB

• Kelebihan beban volume

• Obstruksi aliran ke ventrikel
• Obstruksi aliran keluar ventrikel
• Gangguan kontraksi dan relaksasi
ventrikel

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Fetal Circulation

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 Beban volume berlebihan

• Shunt dari kiri-kanan

– Beban volume di ventrikel
– Sirkulasi berlebihan ke pulmonal
– Penyempitan arteriole paru
– Peningkatan tahanan aliran darah
paru

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 Cont ……

• Shunt kiri-kanan :
– Tingkat atrium
• DSA tipe sinus venosus / PAPVD
– Tingkat ventrikel : VSD
– Tingkat pb darah besar
• PDA
• Trunkus arteriosus
• AP window

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 Atrial septal defect

LA LV
Lungs

PA AO

Systemic
RV RA

Qp > Qs
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 Ventricular Septal defect

Lungs LA LV

PA AO

RV RA Systemic

Qp > Qs

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 Cont….

• Shunt kanan-kiri :
jika tahanan arteriole paru >
tahanan sirkulasi sistemik 
sianosis ( Eisenmenger
sindrome )

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 Cont…

• Lesi Campuran
Klinis :
- sianosis
- gagal jantung kongestif
- corakan pembuluh darah paru
meningkat
Jenis kelainan : TGA
Trunkus arteriosus
Anomali total muara VP
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 Lesi Obstruktif

• Lesi obstruktif dengan defek ki-ka

• Lesi obstruktif tanpa defek
 shunts tergantung beratnya defek

• Contoh : obs aliran masuk ventrikel

– Stenosis mitral / trikuspidal
– Cor triatrium
– Anomali Ebstein

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 Cont….

• Obstruksi saluran keluar

ventrikel :
– Stenosis aorta / pulmonal
– Hipertensi sistemik / pulmonal
– Koarktasio Ao/P

• Gangguan kontraksi
ventrikel
– Kardiomiopati

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Tetralogy of Fallot

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 Pathology of TOF
Leftward deviation  malalignment of
ventricular septal defect + aortic
overriding
Anterior deviation  pulmonary stenosis 
right ventricle outflow tract obstruction 
right ventricular hypertrophy

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Bove EL, Lupinetti FM. Tetralogy of Fallot. Pediatric cardiac surgery. 1994.
Pathology of TOF

• VSD in TOF is a perimembranous defect

• RV outflow tract obst is most frequenly
infundibular stenosis
• The PA branches are usually small
• Right aortic arch is present in 25% of
cases
• In about 5% abnormal coronary arteries
are present

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 Manifestasi klinis

• Tergantung jenis PJB

• Sianotik / non-sianotik
• Gangguan tumbuh kembang
• ISPA berulang
• Cepat lelah
• Sesak
• Gagal jantung

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 Clinical Manifestation of TOF
Cyanotic of the skin and mucous
membranes
ToF  desaturation of arterial blood 
increased concentration of reduced
hemoglobin > 5g/dL in circulation
Clinical manifestation depends on the
source and volume of pulmonary blood
flow  ductus arteriosus and or
aortopulmonary collaterals
Park MK. Pathophysiology of cyanotic congenital heart defects. Pediatric cardiology for practitioners. 2002.
Kulkarni A, Pettersen M. Tetralogy of Fallot with pulmonary atresia. www.emedicine.com. 29
Park MK. Cyanotic congenital heart defects. Pediatric cardiology for practitioners. 2002.
 …Clinical Manifestation

Newborn infant in whom the ductus arteriosus

is the sole source of pulmonary blood flow 
increasingly cyanotic as the DA closes
Severe pulmonary stenosis or pulmonary
atresia  cyanotic at birth or soon after birth
ToF with severe PS or pulmonary atresia 
duct-dependent congenital heart defect

Park MK. Pathophysiology of cyanotic congenital heart defects. Pediatric cardiology for practitioners. 2002.
Kulkarni A, Pettersen M. Tetralogy of Fallot with pulmonary atresia. www.emedicine.com.
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Park MK. Cyanotic congenital heart defects. Pediatric cardiology for practitioners. 2002.
 Pemeriksaan penunjang

• Hematology / AGD
• Foto toraks
• Elektrokardiografi ( EKG )
• Ekokardiografi
• Kateterisasi

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PA and Lateral chest x-ray

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 Ventricular Septal Defect

Cardiomegaly
Apex down ward
Prominence pulmonary
artery segment
Increased pulmonary vascular
marking
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 Tetralogy Fallot

CXR :
Boot-shaped
Concave pulmonary
segment
Apex upturned
Decreased pulmonary
blood flow

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Chest x-ray of TOF

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Normal ECG

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Color Doppler Techniques & Evaluation
Normal color flow image

4-chamber 37
Ventricle septal defect

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Kateterisasi PDA

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Kateterisasi ToF-PA

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Your attention

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 Kuliah pengantar II

PJB
• Diagnosis
• Tatalaksana
• Prognosis / komplikasi

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 Diagnosis

Tahapan diagnosis PJB :

– Evaluasi klinis : riwayat penyakit /
anamnesis dan pemeriksaan fisik
– Pemeriksaan penunjang sederhana :
EKG , foto toraks, darah rutin
– Ekokardiografi : M-mode , 2-dimensi,
doppler (color flow mapping)
– Kateterisasi jantung : hemodinamik
dan angiografi

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 Cont…

• Foto toraks :
– Kardiomegali ( LVH / RVH )
– Vaskularisasi paru
– Cardiac silhouette
• EKG :
– Posisi jantung
– Hipertrofi / Dilatasi
– dll

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 Tetralogy Fallot

• Diagnosis

Clinically :

Most patient are symptomatic with cyanosis at

birth or shortly thereafter

dyspnea on exertion, squatting, or hypoxic spells

develop later

Single 2nd HS, ejection systolic murmur

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 Hypoxic Spell
Hypoxic spells may develop
before total repair
Increasing cyanosis
Decreasing intensity of the heart murmur
Hyperpnoea (rapid and deep)
Severe spell  convulsion, cerebrovascular
accident  death

Park MK. Pathophysiology of cyanotic congenital heart defects. Pediatric cardiology for practitioners. 2002. 46
Bove EL, Lupinetti FM. Tetralogy of Fallot. Pediatric cardiac surgery. 1994.
 Atrial septal Defect

 Clinical findings
Asymptomatic
A relatively slender body build is
typical
Auscultation :
Normal 1st HS or loud
Widely split and fixed 2nd HS
Ejection systolic murmur

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 Atrial Septal Defect

Auscultation :1st HS N or loud

widely split and fixed 2nd HS
Ejection Sistolic Murmur
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 Atrial Septal Defect

Sinus venosus defect Primum ASD

Secundum ASD

Diagram of ASD
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 Atrial
Septal
Defects

(View from
right side)

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 Atrial Septal Defect
Chest X-Ray

Right atrial enlargement

Prominence the MPA
segment
Increased pulmonary
vascular marking
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 Ventricular Septal Defect

• Clinical findings
Day 1st after birth: murmur (-)
After 2-6 weeks : murmur (+)
Murmur : pansystolic grade 3/6 or higher
at LSB 3
Small muscular defect: early systolic murmur
Significant defect: Mid diastolic murmur at
apex

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 Ventricular Septal Defect

Murmur: pansystolic
grade 3/6 or higher at
LSB 3 Small VSD

Large VSD 53
 Ventricular septal Defect

Diagnosis Differential

 PDA with PH
 Tetralogy Fallot non cyanotic
 Inoscent murmur

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 Patent Ductus Arteriosus

• Clinical findings

Small defect:
Symptom (-)
Growth and development normal
Significant defect:
Decreased exercise tolerant
Weigh gained not good

Specific case: pulsus seler at 4th extremities and

continuous murmur

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 Patent Ductus Arteriosus

Auscultation : continuosus murmur

at upper LSB 2
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 Patent Ductus Arteriosus

Diagnosis Differential
AP-window
Arterio-venous fistulae

Management
premature : indomethacin
PDA closure : surgery
transcatheter closure

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 Indomethacin
• Hari I : 0,2 mg/kgbb/hari
• Hari II – VII : 0,1 mg/kgbb/hari

– evaluasi dengan ekokardiografi

– efektif pada bayi prematur

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 Tatalaksana

• Tergantung jenis kelainan PJB

• Medikamentosa
– Mengurangi preload / afterload
– Inotropik
– Mengurangi serangan hipoksia :
propranolol
– Penutupan duktus : indometasin /
ibuprofen
– Mempertahankan duktus :
prostaglandin E1
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 Cont….

• Intervensi
– Bedah :
• paliatif : BT-shunts ,
PA Banding
• Korektif : Biventrikular
repair, one
and half vent repair, dll
– Non-Bedah
• Amplatzer
• Ballon
• dll

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 DSV

Heart failure (+) Heart failure (-)

Anti failure
Aortic valve Infundibular PH Spontaneous Smaller
prolaps stenosis closure

Fail Success PVD(-) PVD(+) Cath

PAB Cath FR<1.5 FR>1.5

Cath

Evaluate Reactive Non-

in 6 mths reactive

Conservative
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Surgical closure/Transcatheter closure
 ASD

Small Shunt Large Shunt

Infants Children/Adults
Observation
Heart Heart PH (-) PH (+)
Evaluation Failure (-) Failure (+)
At age 5-8 yrs PVD PVD
Anti failure (-) (+)
Cath Hyperoxia
Success Fail

FR<1.5 FR>1.5 Age >1yrs Surgical Reac- Non

W >10kg Closure tive reactive

Conservative Transcatheter closure (Secundum ASD) / Conservative

Surgical Closure(others) 62
 PDA

Neonates/Infants Children/Adults

Heart failure (+) Heart failure (-) PH (-) PH (+)

Premature Full term

LR RL

Anti failure Anti failure

Indometacin Hyperoxia

Fail Success
Success Fail Reactive Non
Age >12wks reactive
W >4kg

Spontaneous Surgical Transcatheter closure Conservative

closure ligation 63
Amplatzer Occlusion of Atrial Septal Defect

Clockwise from above:

Transcatheter delivery of
Amplatzer device, which is
positioned across the
atrial septal defect

Left: Amplatzer device in

place
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 Complications / prognosis

• Blok jantung / RBBB

• Residual shunts
• Bacterial endocarditis
• Pulmonary hypertension
• bleeding problems / polycythemic
• Delayed growth and development
• Congestive Heart Failure

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Non-surgical closure using the amplatzer

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Intervensi non-bedah

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Palliative surgery

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Bedah paliatif

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Total correction of TF

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