PENYAKIT JANTUNG

BAWAAN
PADA DEWASA
Abdullah Afif Siregar
Departemen Kardiologi dan Kedokteran Vaskuler
Fakultas Kedokteran USU
Medan
Standard Kompetensi Dokter (Konsil
Kedokteran Indonesia)
Level of expected ability :
Level 1 = mengetahui dan menjelaskan

Level 2 = pernah melihat atau pernah

didemonstrasikan
Level 3 = pernah melakukan atau pernah
menerapkan dibawah supervisi
Level 4 = mampu melakukan secara mandiri
Congenital Heart Disease :
I. Acyanotic :
1. Atrial Septal Defect (ASD)
2. Ventricle Septal Defect (VSD)
3. Patent Ductus Arteriosus (PDA)
4. Aortic Stenosis
5. Pulmonary Stenosis
6. Aortic Coarctation
II. Cyanotic :
1. Tetralogy of Fallot (TOF)
2. Ebstein’s Anomalies
3. Transposition of the great arteries (TGA)
4. Eisenmenger Syndrome
 Atrial Septal Defect
◼ ASD accounts for 1/3 of CHD cases in adult
◼ Women two to three times than men.
◼ Anatomically, it may take the form of
◼ Ostium secundum, in the region of the fossa ovalis (75%)
◼ Ostium primum, in the lower part of the atrial septum (15%) ;
and
◼ Sinus venosus, in the upper atrial septum (10%)
◼ Additional cardiac abnormalities may occur with each
type of defect; these include
◼ mitral-valve prolapse (with ostium secundum defects),
◼ mitral regurgitation (due to a cleft in the anterior mitral-valve
leaflet, which occurs with ostium primum defects),
◼ partial anomalous drainage of the pulmonary veins into the right
atrium or venae cavae (with sinus venosus defects).
◼ Most of atrial septal defects
◼ Result from spontaneous genetic mutations, some are inherited.
◼ The physiologic consequences of ASD are the result of the
shunting of blood from one atrium to the other
◼ The direction and magnitude of the shunt are determined by
◼ the size of the defect and
◼ the relative compliance of the ventricles.
◼ Small defect (< 0.5 cm in diameter) = a small shunt and
no hemodynamic sequelae.
◼ Large defect (> 2 cm in diameter) = a large shunt, with
substantial hemodynamic consequences.
◼ In most adults with atrial septal defects,
The RV is more compliant than the LV; as a result :
◼ left atrial blood is shunted to the right atrium, causing
◼ increased pulmonary blood flow and dilatation of RA, RV, and
MPA
 Pulmonary artery
Atrial septal-
defect

Pulmonary-
veins

Left"
atrium

Right"
atrium

Left"
ventricle

Right"
ventricle
 PHYSICAL EXAMINATION

In a patient with a large atrial septal

defect, a right ventricular or pulmonary
arterial impulse may be palpable.
The first heart sound is normal, and there
is wide and fixed splitting of the second
heart sound.
A systolic ejection murmur, audible in the
second left intercostal space, peaks in
mid-systole, ends before the second
heart sound, and is usually so soft
Electrocardiography

A patient with atrial septal defect often has right-axis deviation

and incomplete right bundle-branch block, right ventricle
hypertrophy and right atrial enlargement.

A patient with ostium primum defects has left-axis deviation

A patient with sinus venosus defects has a junctional or low

atrial rhythm (inverted P waves in the inferior leads) occurs.

A patient with an atrial septal defect usually has normal sinus

rhythm for the first three decades of life, after which atrial
arrhythmias, including atrial fibrillation and supraventricular
tachycardia, may appear.
Chest X ray of VSD with various
pattern of the heart and lung
vascularity

http://myweb.lsbu.ac.uk/dirt/museum/simon/56-141-gsa30.jpg
Echocardiography :

Sub xiphoid view

A. Sinus venosus defect
B. ASD secundum
C. ASD primum
Kateterisasi ASD
Natural history :

◼ A small defect with minimal left-to-right shunting

(characterized by Qp / Qs <1.5) usually causes no
symptoms or hemodynamic abnormalities and therefore
does not require closure.
◼ A moderate or large ASD often have no symptoms until the
third or fourth decades of life despite substantial left-to-
right shunting (characterized by Qp / Qs 1.5 or more).
◼ Over the years, the increased volume of blood flowing
through the chambers of the right side of the heart usually
causes RV dilatation and failure.
◼ Obstructive pulmonary vascular disease (Eisenmenger’s
syndrome) occurs rarely in adults with atrial septal defect.
Natural history :

◼ A symptomatic patient with an ASD typically reports

fatigue or dyspnea on exertion.
◼ Anti heart failure agent (such as diuretics, digoxin) could
be given if heart failured developed.
◼ Alternatively, the development of such sequelae as
supraventricular arrhythmias, right heart failure,
paradoxical embolism, or recurrent pulmonary infections
may prompt the patient to seek medical attention.
◼ Although a few patients with an unrepaired atrial septal
defect have survived into the eighth or ninth decade of
life, those with sizable shunts often die of right
ventricular failure or arrhythmia in their 30s or 40s.
Natural history :

◼ An Atrial Septal Defect with a ratio of pulmonary to systemic

flow of 1.5 or more should be closed surgically to prevent
right ventricular dysfunction.
◼ Surgical closure is not recommended for patients with
irreversible pulmonary vascular disease and pulmonary
hypertension.
◼ Devices for percutaneous atrial septal closure are under
investigation, their safety and efficacy are known.
◼ Prophylaxis against infective endocarditis is not
recommended
◼ Patients with atrial septal defects (repaired or unrepaired)
unless a concomitant valvular abnormality (e.g., mitral-valve
cleft or prolapse) is present.
 Surgical closure
ASD procedure

http://www.hsforum.com/stories/storyReader$4137
Devices for percutaneous atrial septal closure
procedure (Amplatzs Septal Occluder)
Devices for percutaneous atrial septal closure procedure
Devices for percutaneous atrial
septal closure procedure
 Ventricular Septal Defect
◼ Ventricular Septal Defect is the most common congenital
cardiac abnormality in infants and children.
◼ It occurs with similar frequency in boys and girls.
◼ 25 to 40 percent of such defects close spontaneously by
the time the child is 2 years old; 90 percent of those that
eventually close do so by the time the child is 10.
◼ Anatomically, located are
◼ 70 percent in the membranous portion of the
interventricular septum,
◼ 20 percent in the muscular portion of the septum,
◼ 5 percent just below the aortic valve (thereby undermining
the valve annulus and causing regurgitation), and
◼ 5 percent near the junction of the mitral and tricuspid
valves (so-called atrioventricular canal defects).
 Pulmonary artery

Pulmonary-
veins

Left"
atrium

Right"
atrium

Left"
ventricle

Right"
ventricle

Ventricle
Septal
Defect
A view of the ventricular septal defect (VSD)
from the left side. The VSD lies immediately
beneath the aortic valve.
Hemodynamic VSD

• The physiologic consequences of a ventricular septal

defect are determined by the size of the defect and the
relative resistance in the systemic and pulmonary
vascular beds.
• If the defect is small, there is little or no functional
disturbance, since pulmonary blood flow is increased only
minimally.
• In contrast, if the defect is large, the ventricular systolic
pressures are equal and the magnitude of flow to the
pulmonary and systemic circulations is determined by the
resistances in the two beds. Initially, systemic vascular
resistance exceeds pulmonary vascular resistance, so
that left-to-right shunting predominates
 Hemodynamic VSD

◼ Over time, the pulmonary vascular resistance usually

increases, and the magnitude of left-to-right shunting
declines.
◼ Eventually, the pulmonary vascular resistance equals or
exceeds the systemic resistance; the shunting of blood
from left to right then ceases, and right-to left shunting
begins.
◼ With substantial left-to-right shunting and little or no
pulmonary hypertension, the left ventricular impulse is
dynamic and laterally displaced, and the right ventricular
impulse is weak.
◼ If pulmonary hypertension develops, a right ventricular
heave and a pulsation over the pulmonary trunk may be
palpated.
 holosystolic murmur

short mid-diastolic apical rumble

systolic ejection murmurs

Auscultation :
◼ The murmur of a moderate or large defect is
holosystolic, loudest at the lower left sternal border, and
usually accompanied by a palpable thrill.
◼ A short mid-diastolic apical rumble (caused by
increased flow through the mitral valve) may be heard.
◼ Small, muscular ventricular septal defects may produce
high frequency systolic ejection murmurs that
terminate before the end of systole (when the defect is
occluded by contracting heart muscle).
◼ The holosystolic murmur and thrill diminish and eventually
disappear as flow through the defect decreases, and a
murmur of pulmonary regurgitation (Graham
Steell’s murmur) may appear. Finally, cyanosis and
clubbing are present.
A. PA chest radiograph demonstrates cardiomegaly,
B. the pulmonary outflow tract is convex and
C. the pulmonary arterial markings are increased
Electrocardiography (ECG) and chest radiography
(CXR)
◼ Electrocardiography (ECG) and chest radiography (CXR)
provide insight into the magnitude of the hemodynamic
impairment.
◼ Small VSD, the ECG and CXR are normal.
◼ With a large defect, there is electrocardiographic
evidence of left atrial and ventricular enlargement,
◼ The left ventricular enlargement and “shunt
vascularity”are evident on the radiograph.
◼ If pulmonary hypertension occurs, the QRS axis
shifts to the right,and right atrial and ventricular
enlargement are noted on the electrocardiogram.
◼ The chest film of a patient with pulmonary
hypertension shows marked enlargement of the
proximal pulmonary arteries, rapid tapering of the
peripheral pulmonary arteries, and oligemic lung fields.
VSD + Eisenmenger
 VSD +
Eisenmenger
Echocardiography :

◼ Two-dimensional echocardiographywith
Doppler flow can confirm the presence
and location of the ventricular septal
defect,
◼ Color-flow mapping provides information
about the magnitude and direction of
shunting.
Echocardiography examination
 Kateterisasi VSD

With catheterization and angiography, one can

confirm the presence and location of the
defect, as well as determine the magnitude of
shunting and the pulmonary vascular
resistance.
Angiography VSD

Aortic valve
Natural history and treatment :

◼ The natural history of ventricular septal defect depends

on the size of the defect and the pulmonary vascular
resistance. Adults with small defects and normal
pulmonary arterial pressure are generally asymptomatic,
and pulmonary vascular disease is unlikely to develop.
◼ Persistent defects, however, may predispose patients to
endocarditis, arrhythmias, heart failure, aortic
regurgitation, and pulmonary hypertension.
◼ Therefore, periodic clinical and laboratory evaluations
with electrocardiography, chest radiography, and
echocardiography are recommended, depending on the
presence of these complications or associated lesions.
 Natural history and treatment :

◼ Congestive heart failure due to chronic volume overload

of the ventricles occurs in patients with isolated medium
or large VSDs, is rarely seen in adults because most
patients present and undergo repair before adulthood.
◼ If congestive heart failure appeared, diuretics, digoxin
and inotropic agent could be given
◼ Surgical closure of the defect is recommended.
◼ VSD is uncommon in women of reproductive age.
Patients who have small defects with a shunt ratio less
than 2.0, normal pulmonary pressure, and preserved
functional aerobic capacity can undergo pregnancy with
little or no risk.
◼ However, pregnancy is contraindicated in patients with
the Eisenmenger complex because of the significant risk
for maternal death, up to 50%
Surgical closure
VSD procedure
 Natural history and treatment
:

◼ Clamshell-type catheter occlusion devices are

being tested as a means of closing apical
muscular VSDs. Successful transcatheter device
closure of trabecular (muscular) and
perimembranous VSDs has been reported

Aortic valve

Aortic valve
Patent Ductus Arteriosus
◼ The ductus arteriosus connects the descending aorta (just
distal to the left subclavian artery) to the left pulmonary
artery.
◼ In the fetus, it permits pulmonary arterial blood to bypass
the unexpanded lungs and enter the descending aorta for
oxygenation in the placenta.
◼ It normally closes soon after birth, but in some infants it
does not close spontaneously. PDA accounts for about 10
percent of cases of congenital heart disease.
◼ Its incidence is higher than average in pregnancies
complicated by persistent perinatal hypoxemia or maternal
rubella infection and among infants born at high altitude or
prematurely.
Causes
◼ The cause of patent ductus arteriosus (PDA) is
not known.
◼ Genetics may play a role. A defect in one or
more genes could prevent the ductus arteriosus
from closing normally after birth.
◼ PDA is more common in:
◼ Premature infants (babies born too early)
◼ Infants with genetic abnormalities such as Down
syndrome
◼ Infants whose mother had German measles (rubella)
during pregnancy
Normal Circulation in a Fetus
Physical Examination :

◼ A patient with PDA and a moderate or large shunt has

bounding peripheral arterial pulses, a widened pulse
pressure, and a hyperdynamic left ventricular impulse.
◼ The first heart sound is normal.A continuous
“machinery” murmur, audible in the second left
anterior intercostal space.
◼ With a large shunt, mid-diastolic and systolic
murmurs (from increased flow through the mitral and
aortic valves, respectively) may be noted.
◼ If pulmonary vascular obstruction and hypertension
develop,the continuous murmur decreases in duration
and intensity and eventually disappears and a
pulmonary ejection click and a diastolic decrescendo
murmur of pulmonary regurgitation may appear.
CHEST X RAY

• Small PDA, the ECG and CXR film are

normal.
• Large PDA and substantial left-to right
shunting, left atrial and ventricular
hypertrophy are evident,
• The chest film shows pulmonary
plethora, proximal pulmonary arterial
dilatation, and a prominent ascending
aorta. The ductus arteriosus may be
visualized as an opacity at the
confluence of the descending aorta
and the aortic knob.
• If pulmonary hypertension develops,
right ventricular hypertrophy is noted.
Echocardiography :
◼ With two-dimen
sional echocardi
ography,the ductus
arteriosus can usu
ally be visualized
◼ Doppler studies
demonstrate
continuous flow in
the pulmonary
trunk.
In patent ductus arteriosus,
pulmonary blood flow, LA and Kateterisasi PDA
LV volumes, and ascending AO
volume are increased.

AO = aorta; LA = left atrium;

LV = left ventricle; PA = pulmonary artery.
TREATMENT :

◼ Pharmacological :
◼ Medical management such as diuretics and fluid restriction
◼ Adequate calories and minerals with fluid restriction
◼ Indomethacin (0.1- 0.2 mg/kg IV) is a potent stimulator of
ductal closure. It blocks the enzyme cyclooxygenase
inhibiting prostaglandin synthesis thereby facilitating ductal
closure (for infants)
◼ Ibuprofen, another non-selective cyclooxygenase inhibitor,
given on the third day of postnatal life appears to be as
effective as indomethacin for PDA closure but less likely to
induce oliguria (for infants)
◼ Non Pharmacological :
◼ Surgical ligation
◼ Trans-catheter closure
Surgical ligation :
The classical approach via a
left lateral sternotomy with
ligation can be performed in
an operating room or at the
bedside with low mortality.
Trans-catheter closure :
• Coil
• ADO = Amplatz Ductal
Occluder

Closure of a PDA by coil catheterization. (A) Injection into the aorta reveals a
large PDA at baseline. (B) Following placement of a coil the angiographic dye
no longer crosses into the pulmonary artery confirming ductal closure.
(MPA = main pulmonary artery, PDA = patent ductus arteriosus, DA = descen
ding aorta)
Tetralogy of fallot

Kelainan pada Tetralogy of Fallot :

1. Ventricular Septal Defect 3. Pulmonal Stenosis
2. Overrding Aorta 4. Right Ventricle Hypertrophie
Hemodinamik Tetralogy of fallot
Tetralogy of Fallot (TOF)

• Tetralogy Fallot, PJB sianotik yang paling sering didapati

setelah masa bayi dgn karakteristik kelainan berupa :
1. Ventrikel Septal Defek besar
2. Ovverriding Aorta terhadap ventrikel kiri dan kanan
3. Obstruksi right ventricular outflow tract (obstruksi bisa
subvalvular, valvular, supravalvular, atau pada cabang
arteri pulmonalis),
4. Hipertropi Ventrikel kanan

• Kelainan yang menyertai berupa : right aortic arch in 25

percent of patients, atrial septal defek (10 % & disebut
pentalogy Fallot), dan anomali arteri koroner (10 %).
• Pasien Tetralogy Fallot mepunyai pirau kanan-ke-kiri sehingga
menimbulkan sianosis.
• Derajat banyaknya aliran darah dari kanan ke kiri
ditentukan oleh besarnya VSD dan resistensi
outflow tract pada ventrikel kanan
• Resistensi yg melalui right ventricular outflow tract
relative tetap, dan banyaknya aliran darah
ditentukan perubahan resistensi vaskular sistemik.
• Penurunan resitensi vascular systemic
meningkatkan pirau kanan-ke-kiri sedangkan
peningkatkan resitensi vascular systemic
menurunkan pirau kanan-ke-kiri
• Kebanyakan pasien tetralogy Fallot mempunyai
sianosis sejak lahir atau dalam 1 tahun pertama
sejak lahir.
▪Pemeriksaan fisik :
▪ Sianosis sentral
▪ Jari tabuh (clubbing fingers)
▪ Palpasi
▪ Pulse perifer normal
▪ Right ventricular lift or tap teraba, systolic thrill teraba
▪ Auskultasi :
▪ S1 normal,
▪ S2 single, karena komponen pulmonal tdk terdengar
▪ Aortic ejection click (due to a dilated, overriding aorta) bisa
terdengar
▪ Systolic ejection murmur terdengar sepanjang pinggir kiri
sternum
▪ Intensitas dan durasi murmur berhubungan terbalik dengan
derajat obstruksi
▪ Electrocardiogram :
▪ Right-axis deviation and
▪ Right ventricular hypertrophy.
• Pada anak sebagian penderita mengalami “hypoxic spells,”
yg ditandai dgn takipnea dan hiperpnea, disertai sianosis
yang bertambah kehilangan kesadaran, seizures, cerebro
vascular accidents, dan kematian.
• Spells tdk pernah terjadi pada remaja atau dewasa.
• Tetralogy Fallot pada dewasa mengalami dispnea dan
toleransi kerja yang terbatas dan mengalami komplikasi
kronis sianosis berupa eritrositosis, hiperviskositas, kelainan
hemostasis, abses otak atau stroke, dan endokarditis
• Tanpa intervensi bedah sebagian besar akan meninggal
pada masa anak. Survival rate :
66 persen pada usia 1 tahun
40 persen pada usia 3 tahun
11 persen pada usia 20 tahun
6 persen pada usia 30 tahun
3 persen pada usia 40 tahun
 FOTO TORAKS

On radiography, the size of the heart

is normal or small, and lung
markings are diminished. The
heart is classically “boot-shaped,”
with an upturned right ventricular
apex and a concave main
pulmonary arterial segment. A
right sided aortic arch may be
69
present.
 EKOKARDIOGRAFI

Ekokardiografi :
Dapat menegakkan diagnosis, dan kelainan yg menyertai.
Menilai derajat obstruksi RVOT )right ventricular outflow tract)
Ukuran arteri pulmonalis dan cabangnya,
Jumlah dan cabang VSD.
Pirau Right-to-left shunting melalui VSD
Kateterisasi :
Untuk konfirmasi diagnosis dan kelainan tambahan
Data kelainan anatomi dan hemodinamik (lokasi dan besarnya pirau
Derajat dan beratnya obstruksi RVOT (of right ventricular outflow tract)
Gambaran anatomi obstruksi RVOT dan cabang arteri pulmonalis
Asal arteri koroner dan cabangnya
 Total koreksi

TERAPI SURGIKAL :
1. Palliatif (sementara)
2. Total koreksi
Paska operasi (komplikasi) :
• Ventricular arrhythmias pada pasient yg operasi pada usia
lanjut
• Moderate or severe pulmonary regurgitation,
• Systolic and diastolic ventricular dysfunction,
• Pemanjangan QRS interval ( >180 msec) Bundle branch
block.
• Atrial fibrillation atau flutter
• Aneurysma bisa terjadi pada tempat operasi right
ventricular outflow tract

Pasien tetralogy of Fallot (baik operasi atau tanpa operasi)

beresiko utk endokarditis ,karena itu perlu antibiotika
profilaksis
HYPOXIC SPELL (pada bayi dan anak)
(Cyanotic spell, hypercyanotic spell, “tet” spell)
Hypoxic spells ditandai oleh paroxysm hyperpnea
(respirasi cepat dan dalam), irritability, tangis
berkepanjangan, sianosis bertambah
Insidens antara usia 2 dan 4 bulan, sering terjadi
pada pagi hari setelah menangis, minum susu, dan
menangis
Spell yang berat menimbulkan kelemahan, konvulsi,
CVA dan kematian
Penatalaksanaan hipoksik spells :

1. Posisi knee-chest
2. Morphine sulfate, 0.2 mg/kg s.c. atau i.m. utk menekan
sentra pernafasan dan hiperpnea
3. Oxygen
4. Atasi Acidosis dengan sodium bicarbonate (NaHCO3), 1
mEq/kg i.v.

Jika hipoksik spells tidak dpt diberi obat :

1. Vasoconstrictors such as phenylephrine (Neo-Synephrine),
0.02 mg/kg i.v
2. Ketamine, 1 to 3 mg/kg (average of 2 mg/kg) i.v selama
60 detik.
3. Propranolol, 0.01 to 0.25 mg/kg (average 0.05 mg/kg) i.v.
pelan-pelan
TERIMA KASIH