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
2
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

3
Acyanotic defects of CHD
4
Cyanotic defects of CHD
5
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
6
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%

7
Etiologi / Faktor risiko
Sebagian besar kasus tidak
diketahui
Obat-obatan
Penyakit ibu
Pajanan sinar X
Genetik / sindrom tertentu
Multifaktorial

Etiologi ???
8
Chromosomal aberrations
Trisomy 13 syndrome (Pataus syndrome) : 25% CHD : VSD, PDA, ASD
Trisomy 18 ( Edwards syndrome) : 90% CHD : VSD, PDA, dextrocardia
Trisomy 21 ( Down syndrome) : 50% CHD : ECD , VSD
Turners syndrome (XO) : 35% CHD : CoA, AS, ASD
Klinefelters 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

10
11
12
Fetal Circulation
13
Beban volume berlebihan
Shunt dari kiri-kanan
Beban volume di ventrikel
Sirkulasi berlebihan ke pulmonal
Penyempitan arteriole paru
Peningkatan tahanan aliran darah
paru
14
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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LA
LV
RV RA
PA
AO
Systemic
Lungs
Qp > Qs
Atrial septal defect
16
LA
LV
RV
RA
PA
AO
Systemic
Lungs
Qp > Qs
Ventricular Septal defect
17
Cont.
Shunt kanan-kiri :
jika tahanan arteriole paru >
tahanan sirkulasi sistemik
sianosis ( Eisenmenger
sindrome )
18
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

20
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
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.
Park MK. Cyanotic congenital heart defects. Pediatric cardiology for practitioners. 2002.

25
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.
Park MK. Cyanotic congenital heart defects. Pediatric cardiology for practitioners. 2002.

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

Tetralogy Fallot
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Chest x-ray of TOF
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Normal ECG
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Normal color flow image
4-chamber


Color Doppler Techniques & Evaluation
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Ventricle septal defect
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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
36
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 2
nd
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.
Bove EL, Lupinetti FM. Tetralogy of Fallot. Pediatric cardiac surgery. 1994.
39
Clinical findings
Asymptomatic
A relatively slender body build is
typical
Auscultation :
Normal 1st HS or loud
Widely split and fixed 2
nd
HS
Ejection systolic murmur

Atrial septal Defect
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Atrial Septal Defect
Auscultation :1
st
HS N or loud
widely split and fixed 2
nd
HS
Ejection Sistolic Murmur
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Atrial Septal Defect
Diagram of ASD
Sinus venosus defect
Secundum ASD
Primum ASD
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Atrial
Septal
Defects

(View from
right side)
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Right atrial enlargement
Prominence the MPA
segment
Increased pulmonary
vascular marking
Atrial Septal Defect
Chest X-Ray
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Ventricular Septal Defect
Clinical findings
Day 1
st
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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Small VSD
Large VSD
Ventricular Septal Defect
Murmur: pansystolic
grade 3/6 or higher at
LSB 3

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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 4
th
extremities and
continuous murmur

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Patent Ductus Arteriosus
Auscultation : continuosus murmur
at upper LSB 2

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Diagnosis Differential
AP-window
Arterio-venous fistulae

Management
premature : indomethacin
PDA closure : surgery
transcatheter closure
Patent Ductus Arteriosus
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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
52
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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Complications / prognosis
Blok jantung / RBBB
Residual shunts
Bacterial endocarditis
Pulmonary hypertension
bleeding problems / polycythemic
Delayed growth and development
Congestive Heart Failure
54
Non-surgical closure using the amplatzer
The heart is not everything,
But without a heart,
Everything is nothing