Penyakit Jantung Bawaan - I

dr. Shirley L Anggriawan, Sp.A (K)

19 Maret 2014
Penyakit Jantung Bawaan (PJB)

 Kelainan kongenital terbanyak

(1/3 dari total penyakit bawaan)
 16% bayi prematur menderita PJB
(PJB pada prematur 2 X bayi cukup bulan)
 30% menunjukkan gejala kilinis pada hari
pertama - minggu pertama lahir
 kelainan bawaan mayor (25% adalah PJB berat)
 7% kematian neonatal

Lancet 2005;365:891-900
REQUIREMENTS FOR MANAGING CHD
UNDERSTANDING OF :
 Pathophysiology of the diseases
 The Clinical symptoms & signs of the
disease
 Natural history of the diseases
 Initial treatment (incl.emergency case)
 WHEN, WHERE and HOW to refer
The Role of Primary Physicians in
managing CHD in Children
 Early detection
 Initial treatment (if needed)
 Decision when to be referred.
 Follow up after intervention
(surgery OR catheter intervention)
Penyakit Jantung Bawaan (PJB)

Distribusi PJB berdasarkan umur saat diagnosis

• 0-6 hari: Transposition of Great Artery (19%)

Hypoplastic Left Heart Syndrome (14%)
Tetralogy of Fallot (8%)
Coarctation of the Aorta (7%)
Ventricular Septal Defect (3%)
Penyakit Jantung Bawaan (PJB)

Distribusi PJB berdasarkan umur saat diagnosis

• 7-13 hari: Coarctation of the Aorta (16%)

Ventricular Septal Defect (14%)
Hypoplastic Left Heart Syndrome (8%)
Transposition of Great Artery (7%)
Tetralogy of Falllot (7%)
Penyakit Jantung Bawaan (PJB)

Distribusi PJB berdasarkan umur saat diagnosis

• 14-28 hari: Ventricular Septal Defect (16%)

Coarctation of the Aorta (12%)
Tetralogy of Fallot (7%)
Transposition of Great Arteries (7%)
Patent Ductus Arteriosus (5%)
Penyakit Jantung Bawaan (PJB)

• Angka kejadian: 8-10 tiap 1000 kelahiran

hidup (1 tiap 100 kelahiran)
• Indonesia: 50.000 kasus/ tahun
• 30% PJB dikatakan normal saat pulang
Penyakit Jantung Bawaan (PJB)

• No murmur does not exclude CHD

• The presence of murmur does not mean that
there is CHD
PJB pada Bayi

• PF rutin gagal mendeteksi:

> 50% PJB pada neonatus
> 1/3 PJB pada usia 6 minggu
• Pemeriksaan normal tidak menyingkirkan PJB
• Bayi dengan bising jantung saat lahir atau usia 6
minggu  rujuk untuk evaluasi jantung
• Bayi dengan sindrom Down prevalens PJB tinggi

Arch Dis Child Fetal Neonatal 1999;80:F49-F53

Perbedaan Sirkulasi Janin dan Neonatus
Perbedaan Sirkulasi Janin dan Neonatus
• 4 shunts in fetal circulation :
- placenta
- ductus venosus
- foramen ovale
- ductus arteriosus
• Placent receives largest amount
of combined R and L ventricular
output (55%),has lowest vascular
resistance in fetus
• Blood is oxygenated in the
placenta
• SVC – 15% of combined
ventricular output
• IVC – 70%
Combined ventricular output

RV is
larger
– 55%

RV pressure
= LV pressure

LV –
45%
 Changes in Circulation after Birth

• Primary change :
a shift of blood flow for gas exchange from the
placenta to the lungs.
Changes in Circulation after Birth

• ↑ in systemic vascular resistance

Removal of • Cessation of blood flow in UV
placenta resulting in closure of the ductus
venosus  ↓ RAP

• ↓ PVR, ↑ PBF and fall in PA pressure

• ↑ PBF & ↑ pulmonary venous
Lung return  ↑ LAP > RAP  Functional
expansion closure of foramen ovale
• ↑ arterial oxygen saturation 
closure of PDA
Changes in PA pressure, PBF and PVR
 Pulmonary Vascular Resistance

• Direct transmission of LV
pressure to PA through the
Large defect  delay fall in PVR 
VSD high PA pressure  CHF doesn’t
develop until 6 or 8 weeks of age
or older

Small • No direct transmission of the LV

pressure to PA  PVR falls
VSD normally
 Closure of The Ductus Arteriosus

• Functional closure of DA : within 10-15 hours after birth

by constriction of the medial smooth muscle in the
ductus

• Anatomic closure is completed by 2 to 3 weeks of age by

permanent changes in the endothelium and subintimal
layers of the ductus

• Oxygen, prostaglandin E2 (PGE2) levels and maturity of

the newborn are important factors in closure of the
ductus
Klasifikasi PJB

• Asianosis/Tidak Biru/Non-Kompleks/Isolated

– Aliran darah paru normal

• Pulmonary Stenosis (PS)
• Aortic Stenosis (AS)
• Coarctation of the Aorta (CoA)

– Aliran darah paru meningkat

• Patent Ductus Arteriosus (PDA)
• Atrial Septal Defect (ASD)
• Ventricular Septal Defect (VSD)
Klasifikasi PJB

• Sianosis/Biru/Kompleks
– Aliran darah paru normal
• TGA tanpa PS
– Aliran darah paru meningkat
• TGA dengan VSD
• Truncus arteriosus
• Total anomaly pulmonary vein drainage
– Aliran darah paru berkurang
• ToF
• Pulmonary atresia
• Ticuspid atresia
PJB Kritis pada Neonatus

• PJB kompleks  aliran darah ke paru/ sistemik

tergantung PDA
– Duct dependent pulmonary circulation
• Atresia pulmonalis
– Duct dependent systemic circulation
• Hypoplastic left heart syndrom
– Duct dependent mixing circulation
• Transposition of great artery
 PJB Kritis

Sirkulasi Paru Tergantung Sirkulasi Sistemik Tergantung Sirkulasi MixingTergantung

Duktus Arteriosus Duktus Arteriosus Duktus Arteriosus
Penyakit Jantung Bawaan (PJB)

• Deteksi Dini
– Diagnosis prenatal
• Fetal ekokardiografi
Penyakit Jantung Bawaan (PJB)
Deteksi dini penting
• Tata laksana dan edukasi tergantung diagnosis pasti
• PJB tertentu  umur optimal untuk koreksi
– HLHS : Minggu pertama lahir
– TGA : 2 minggu
– AVSD komplit : 3-6 bulan
– Trunkus arteriosus : < 6 bulan
• Sebagian PJB saat diagnosis belum perlu tindakan
– Intervensi non-bedah atau bedah dikerjakan pada
umur risiko rendah (1-2 tahun) tapi jangan terlambat
– Intervensi atau bedah segera dilakukan jika terapi
konservatif gagal
Penyakit Jantung Bawaan (PJB)

• Diagnosis
– Riwayat penyakit
– Pemeriksaan fisis
– Pemeriksaan penunjang
• Analisis gas darah DD/
• EKG
• Foto Rontgen toraks
• Ekokardiografi
• Kateterisasi
• Lain-lain: MS CT-scan, MRI
 History taking
• Gestational and Natal History
- Infections
(Maternal Rubella, CMV, herpesvirus, coxsackievirus B)
- Medications
(Amphetamines, phenytoin, retinoic acid, valproic acid)
- Excessive alcohol intake
- Maternal conditions
(diabetic, lupus erythematosus)
• Postnatal History
Tanda dan Gejala PJB
• BB sulit naik
• Toleransi latihan berkurang
– Bayi Masalah minum
– Intermittent feeding
– Prolonged feeding
– Anak besar  Dyspneu on exertion
• Takipnea
• Ortopneu
• Sianosis
• Perfusi sistemik menurun
• ISPA berulang
• Bising jantung
• Lain-lain: kejang
• Growth pattern in infants with CHD :
- cyanotic patients : disturbances in both height
and weight
- Acyanotic patients (particularly those with large
L  R shunt) : more problems with weight gain
than linear growth
- Acyanotic with pressure overload lesions
without intracardiac shunt grow normally
Sianosis
• Sianosis
– Kebiruan pada kulit dan membran mukosa
– Hb-reduksi di atas 5 g/dL pada vena kulit (normal Hb-
reduksi 2 g/dL).
• Sianosis sentral
– Dihubungkan dengan desaturasi darah arteri
• Sianosis perifer
– Saturasi darah arteri normal
– Peningkatan ambilan oksigen pada jaringan
» Renjatan
» Hipovolume
» Vasokonstriksi akibat kedinginan
Sianosis Sentral vs Perifer

• Sentral
– Mukosa mulut
– lidah
• Perifer
– Akral

Lefkowitz B, 2000
Sianosis

• Hb tinggi: mudah timbul sianosis

• Hb rendah: sianosis (-)
• Contoh:
– Hb 15 g/dL sianosis muncul pada SaO2 80%
– Hb 20 g/dL sianosis muncul pada SaO2 85%
– Hb 6 g/dL sianosis muncul pada SaO2 50%
Sianosis
• Untuk timbul sianosis Hb-reduksi 5 g/dl
• Normal Hb-reduksi 2 g/dl, jadi perlu 3 g/dl lagi
• Formula: Desaturasi x Hb = 3
Desaturasi = 3/Hb
• Contoh:
– Hb 15 g/dL
– Desaturasi = 3/15 = 0,2 atau 20%
– SaO2= 100-20 = 80%
– Jadi Pada Hb 15 g/dL, Sianosis muncul pada SaO2 80%
Sianosis
 Clubbing Fingers
• Caused by soft tissue growh under the nail bed
as a consequences of central cyanosis
• Mechanism for soft tissue growht is unclear
• Hypothesis : megakaryocytes present in
systemic venous blood
Cytoplasma of megakaryocytes contains
growth factors

Normal R  L shunt

Megakaryocytes
Platelet are may enter
formed from the systemic
cytoplasm of circulation
megakaryocytes
by fragmentation
during their
passage through Trapped in
pulmonary capillaries of digits
circulation & release growth
factors  clubbing
Clubbing Fingers

• Usually doesn’t occur until a child is 6

months or older
• It is seen first and most pronounced in
thumb
• Early stage : it appears as shininess and
redness of fingertips
• Fully developed : fingers & toes become
thick, wide and have convex nail beds
• Clubbing is also seen in patients with liver
disease, subacute bacterial endocarditis and
hereditary basis without cyanosis
Steps in Management of Cyanotic Newborns

• Chest X-Ray
• ECG
• Arterial blood gases in room air
• Hyperoxitest
• Umbilical artery line
• Prostaglandin E1
Chest X Ray
 Arterial blood gases in room air
confirm or reject central cyanosis

Elevated PCO2  pulmonary or CNS problems

Low PO2  sepsis, circulatory shock or severe
hypoxemia
 70%
100%

Normal

70% 100%
Penyakit Paru Sianosis Sentral
Kelainan Jantung

70% 80% 70% 100%

70% 80% 70% 80%

 70% 100%

Sianosis
Perifer
70% 100%

80%
Udara Kamar
– 21% O2
Kelainan Paru 100% O2

70% 80% 70%

100%

70% 80% 70% 100%

Udara Kamar Kelainan Jantung 100% O2
– 21% O2

70% 70%
100% 100%

70% 80% 70%

80%
 Uji Hiperoksia

Oxygen Ventilation PaCO2 PaO2 Values

Concentration Status Goal
PPHN Lung RL Cardiac
(%)
Disease
21 %-room air Spontaneous 40 40 40 40

100 %-hyperoxia Spontaneous or 40 40 >100 40

MV
100 %-pre and Spontaneous or 40 >10-15 <5 <5
postductal shunt MV

100 %- MV 20-25 >100 >150 40

hyperoxia, (Mechanical
hyperventilation ventilation)

Thompson TR, The Cyanotic Newborn Infant

http://www.med.umn.edu/img/assets/9223