Congenital Heart disease

Dr.Sirwan Mohammed Ismail

F.I.C.M.S , C.A.B.M.S
Over the past 20 to 30 years, major advances
have been made in the diagnosis and
treatment of congenital heart disease in
children. As a result, many children with such
disease now survive to adulthood.
ACYANOTIC CONDITIONS
Atrial Septal Defect(ASD)
ASD accounts for about 1/3 of the cases of
congenital heart disease detected in adults. It
occurs in women 2-3 times as often as in men.

Anatomically has 3 types :

1. Ostium secundum(75%), in the region of the
fossa ovalis
2.Ostium primum(15%), in the lower part of the
atrial septum.
3.Sinus venosus(10%), in the upper atrial septum.
ASD with Resultant Left-to-Right Shunting.
Blood from the pulmonary veins enters the left atrium, after which some of it
crosses the ASD into the right atrium and ventricle (longer arrow).
de of shunting are determined by the size of the defect and the relative compliance of the ventricles. A small defect (less than 0.
sing increased pulmonary blood flow and dilatation of the atria, right ventricle, and pulmonary arteries

Additional cardiac abnormalities may occur

with each type of defect; these include mitral-
valve prolapse (with ostium secundum
defects), mitral regurgitation (with ostium
primum defects).
Although most ASD result from spontaneous
genetic mutations, some are inherited.
 Regardless of anatomical location, the physiologic consequences
of ASD are the result of the shunting of blood from one atrium
to the other; the direction and magnitude of shunting are
determined by the size of the defect and the relative compliance
of the ventricles.
 A small defect (less than 0.5 cm in diameter) is associated with a
small shunt and no hemodynamic sequelae.
 A sizable defect (more than 2 cm in diameter) may be associated
with a large shunt, with substantial hemodynamic consequences.
 In most adults with ASD, the right ventricle is more compliant
than the left; as a result, left atrial blood is shunted to the right
atrium(RA), causing increased pulmonary blood flow and
dilatation of the atria, right ventricle(RV), and pulmonary
arteries

Eventually, if the RV fails or its compliance
declines, the left-to-right shunting diminishes in
magnitude, and right-to-left shunting may even
occur.
In a pt with a large ASD, 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, and is usually so soft that it is
mistaken for an “innocent” flow murmur. Flow
across the ASD itself does not produce a murmur.
ASD with Resultant Left-to-Right Shunting.
Blood from the pulmonary veins enters the left atrium, after which some of it
crosses the ASD into the right atrium and ventricle (longer arrow).
ECG. A pt with ASD usually has normal sinus
rhythm for the first three decades of life, after
which atrial arrhythmias, including atrial
fibrillation and supraventricular tachycardia,
may appear.
ASD often has right-axis deviation and
incomplete right bundle-branch block. Left-axis
deviation occurs with ostium primum defects.
CXR : prominent pulmonary arteries and a
peripheral pulmonary vascular pattern of “shunt
vascularity”
Transthoracic echocardiography may reveal dilatation of
the atria and right ventricle. Ostium primum or ostium
secundum defects are often visualized directly, but
transthoracic echo. usually does not identify sinus venosus
defects. The sensitivity of echo. may be enhanced by
injecting microbubbles of air in solution into a peripheral
vein, after which the movement of some of the bubbles
across the defect into the left atrium can be visualized.
Transesophageal and Doppler color-flow echo. are
particularly useful in detecting and determining the
location of ASD and in identifying sinus venosus defects.
Cardiac catheterization may be required to determine the
magnitude and direction of shunting, as well as whether
pulmonary hypertension is present and, if so, its severity.
Since ASD initially produce no symptoms and are not
accompanied by striking abnormalities on physical
examination, they often remain undetected for years.
 A small defect with minimal Lt-to-Rt shunting ( Ratio of
pulmonary to systemic flow of < 1.5) usually causes no
symptoms or hemodynamic abnormalities and therefore
does not require closure.
 Moderate or large ASD often have no symptoms until the
third or fourth decades of life despite substantial left-to-
right shunting (Ratio of pulmonary to systemic flow of 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 right ventricular dilatation and failure.
Obstructive pulmonary vascular disease
(Eisenmenger's syndrome) occurs rarely in adults
with ASD.
A symptomatic pt with an ASD typically reports
fatigue or dyspnea on exertion. Alternatively, the
development of such sequelae as supraventricular
arrhythmias, right heart failure, paradoxical
embolism, or recurrent pulmonary infections may
prompt the pt. to seek medical attention. Although a
few pts with an unrepaired ASD have survived into
the 8th or 9th decade of life, those with sizable shunts
often die of right ventricular failure or arrhythmia in
their 30s or 40s.
An ASD with a ratio of pulmonary to systemic
flow of 1.5 or more should be closed surgically to
prevent RV dysfunction. Surgical closure is not
recommended for pts with irreversible pulmonary
vascular disease and pulmonary HT. Although
devices for percutaneous atrial septal closure are
under investigation, their safety and efficacy are
unknown. Prophylaxis against infective
endocarditis is not recommended for pts with ASD
(repaired or unrepaired) unless a concomitant
valvular abnormality(e.g. mitral-valve prolapse)is
present.
Ventricular Septal Defect(VSD)
Is the most common congenital cardiac abnormality in
infants and children. It occurs with similar frequency in boys
and girls.
 25-40 % of such defects close spontaneously by the time the
child is 2 years old; 90 % of those that eventually close do so
by the time the child is 10.
Anatomically, 70 % are located in the membranous portion of
the interventricular septum, 20 % in the muscular portion of
the septum, 5 % just below the aortic valve ( causing
regurgitation), and 5% near the junction of the mitral and
tricuspid valves (called AV canal defects).
In small VSD, there is little or no functional disturbance,
since pulmonary blood flow is increased only minimally.
In large VSD, Initially systemic vascular resistance exceeds
pulmonary vascular resistance, so that Lt-to-Rt shunting
predominates
Ventricular Septal Defect with Resultant Left-to-Right Shunting.
When the left ventricle contracts, it ejects some blood into the aorta and some across the
 Over time, the pulmonary vascular resistance usually increases, and
the magnitude of Lt-to-Rt shunting declines. Eventually, the pulmonary
vascular resistance equals or exceeds the systemic resistance; the
shunting of blood from Lt to Rt then ceases, and Rt-to-Lt shunting
begins.
 The murmur of a moderate or large VSD is pansystolic, 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 VSD may produce high-frequency systolic ejection
murmurs that terminate before the end of systole. If pulmonary
hypertension develops, a RV heave and a pulsation over the pulmonary
trunk may be palpated. The pansystolic 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.
 ECG and CXR provide insight into the magnitude of the
hemodynamic impairment. With a small VSD, both are normal.
With a large defect, there is ECG evidence of LA and LV
enlargement, and LV enlargement and “shunt vascularity” are
evident on the CXR.
 If pulmonary HT occurs, the QRS axis shifts to the right, and RA
and RV enlargement are noted on the ECG. The CXR of a pt with
pulmonary HT shows marked enlargement of the proximal
pulmonary arteries, rapid tapering of the peripheral pulmonary
arteries, and oligemic lung fields. 2D echo. with Doppler flow can
confirm the presence and location of the VSD, and color-flow
mapping provides information about the magnitude and direction
of shunting. 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.
The natural history of VSD depends on the size of the
defect and the pulmonary vascular resistance. Adults with
small VSD and normal pulmonary arterial pressure are
generally asymptomatic, and pulmonary vascular disease is
unlikely to develop. Such pts do not require surgical
closure, but they are at risk for infective endocarditis and
should therefore receive antibiotic prophylaxis.
 In contrast, pts with large ASD who survive to adulthood
usually have LV failure or pulmonary HT with associated RV
failure. Surgical closure of the defect is recommended, if
the magnitude of pulmonary vascular obstructive disease is
not prohibitive. Once the ratio of pulmonary to systemic
vascular resistance exceeds 0.7, the risk associated with
surgery is prohibitive.
Patent Ductus Arteriosus(PDA)
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, and there is continuous flow
from the aorta to the pulmonary artery (i.e., left-to-
right shunting)
Patent Ductus Arteriosus with Resultant Left-to-Right Shunting.
Some of the blood from the aorta crosses the ductus arteriosus and flows into the pulmonary artery (arrows ).
 Patent ductus arteriosus( PDA) accounts for about 10 % 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.
 A pt with PDA and a moderate or large shunt has bounding
peripheral arterial pulses, a widened pulse pressure, and a
hyperdynamic LV impulse. The 1st 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 murmur of pulmonary regurgitation may appear.
With a small PDA, the ECG &CXR are normal. With a large
PDA and substantial LT to RT shunting, LA &LV
hypertrophy are evident, and the CXR shows pulmonary
plethora, proximal pulmonary arterial dilatation, and a
prominent ascending aorta. If pulmonary HT develops, RV
hypertrophy is noted. With 2D echo., the PDA can usually
be visualized, and Doppler studies demonstrate continuous
flow in the pulmonary trunk. Catheterization and
angiography make it possible to quantify the magnitude of
shunting and the pulmonary vascular resistance as well as
visualize the PDA.
PDA rarely closes spontaneously after infancy. A small PDA
causes no symptoms, and a person with a defect of this size
can have a normal life expectancy.
 However, the presence of a small PDA entails an elevated risk
of infective endocarditis, which involves the pulmonary side of
the PDA or the pulmonary artery opposite the duct orifice, from
which septic pulmonary emboli may arise. PDA of moderate
size may cause no symptoms during infancy; during childhood
or adulthood, fatigue, dyspnea, or palpitations may appear. In
addition, the PDA may become aneurysmal and calcified, which
may lead to its rupture. With larger shunts, flow is markedly
increased, which may precipitate LV failure. Eventually,
pulmonary vascular obstruction may develop; when the
pulmonary vascular resistance equals or exceeds the systemic
vascular resistance, the direction of shunting reverses. 1/3 of
pts with a PDA that is not surgically repaired die of heart
failure, pulmonary HT, or endarteritis by the age of 40 years,
and 2/3 die by the age of 60 years.
Surgical ligation of PDA, generally
accomplished without cardiopulmonary
bypass, has a mortality of < 0.5 %. Because
of the risk of endarteritis associated with
unrepaired PDA (estimated at 0.45 %annually
after the 2nd decade of life) and the low risk
associated with ligation, we recommend that
even a small PDA be ligated surgically or
occluded with a percutaneously placed
closure device. Once severe pulmonary
vascular obstructive disease develops,
surgical ligation or percutaneous closure is
Aortic Stenosis
The most common pathological finding in patients with
symptomatic aortic stenosis who are younger than 65 years of
age is a bicuspid aortic valve, which is found in 2 to 3 percent
of the population.44 It is four times as common in men and
boys as in women and girls. 20%of patients with bicuspid
aortic valve have an associated cardiovascular abnormality,45
such as PDA or aortic coarctation. The area of the aortic
orifice in a normal adult is 3.0 to 4.0 cm. Aortic stenosis does
not become hemodynamically important unless the valve area
is reduced to approximately 1.0 cm2.
 The aortic component of the second heart sound is
diminished or inaudible, and a fourth heart sound is present.
A harsh ejection systolic murmur is audible over the aortic
area and often radiates to the neck.
 LV hypertrophy results from gradually worsening aortic stenosis and
is usually evident on ECG. Unless the LV dilates, the CXR
demonstrates a normal cardiothoracic silhouette. In most patients,
transthoracic echocardiography with Doppler flow permits an
accurate assessment of the severity of the stenosis and of LV systolic
function. Cardiac catheterization is performed to determine the
severity of aortic stenosis in cases in which it cannot be assessed
noninvasively and to determine whether concomitant coronary artery
disease is present.
 The classic symptoms of aortic stenosis are chest pain , syncope or
near-syncope, and dyspnea . Adults with aortic stenosis who are
asymptomatic have a normal life expectancy; they should receive
antibiotic prophylaxis against infective endocarditis. Once symptoms
appear, survival is limited: the median survival is only five years after
angina develops, three years after syncope occurs, and two years
after symptoms of heart failure appear. Therefore, patients with
symptomatic aortic stenosis should undergo valve replacement.
 Pulmonary Stenosis
 Pulmonary stenosis constitutes 10 to 12 percent of the cases of congenital heart disease in adults. Obstruction of right ventricular outflow is valvular in 90 percent of patients,
and in the remainder it is supravalvular or subvalvular. Supravalvular pulmonary stenosis results from the narrowing of the pulmonary trunk, its bifurcation, or its peripheral
branches; it often coexists with other congenital cardiac abnormalities (valvular pulmonary stenosis, atrial septal defect, ventricular septal defect, patent ductus arteriosus, or
tetralogy of Fallot). It is a common feature of Williams syndrome,47 which is characterized by infantile hypercalcemia, elfin facies, and mental retardation, in addition to
supravalvular pulmonary stenosis. Subvalvular pulmonary stenosis, which is caused by the narrowing of the right ventricular infundibulum or subinfundibulum, usually occurs in
association with a ventricular septal defect.
 Valvular pulmonary stenosis typically is an isolated abnormality, but it may occur in association with ventricular septal defect or lead to secondary hypertrophic subpulmonary
stenosis. The valve leaflets usually are thin and pliant; all three valve cusps are present; and the commissures are fused, so that during ventricular systole the valve is dome-
shaped with a small central orifice. Among patients with valvular stenosis, 10 to 15 percent have dysplastic leaflets, which are thickened, immobile, and composed of
myxomatous tissue. About two thirds of patients with Noonan's syndrome have pulmonary stenosis due to valve dysplasia.48
 The area of the pulmonary-valve orifice in a normal adult is about 2.0 cm2 per square meter of body-surface area, and there is no systolic pressure gradient across the valve.
When the valve becomes stenotic, the right ventricular systolic pressure increases and a systolic pressure gradient is observed between the right ventricle and pulmonary
artery. Pulmonary stenosis is considered mild if the valve area is larger than 1.0 cm 2 per square meter, the transvalvular gradient is less than 50 mm Hg, or the peak right
ventricular systolic pressure is less than 75 mm Hg. Pulmonary stenosis is considered moderate if the valve area is 0.5 to 1.0 cm 2 per square meter, the transvalvular gradient is
50 to 80 mm Hg, or the right ventricular systolic pressure is 75 to 100 mm Hg. Severe pulmonary stenosis is characterized by a valve area of less than 0.5 cm 2 per square meter,
a transvalvular gradient of more than 80 mm Hg, or a right ventricular systolic pressure of more than 100 mm Hg.49,50
 In patients with moderate or severe pulmonary stenosis, a right ventricular impulse may be palpated at the left sternal border, and there may be a thrill at the second left
intercostal space. The first heart sound is normal, and the second heart sound is widely split but moves normally with respiration; its pulmonary component is soft and delayed.
A harsh crescendo–decrescendo systolic murmur that increases in intensity with inspiration is audible along the left sternal border. If the valve is pliable, an ejection click often
precedes the murmur; typically, the click softens or disappears with inspiration. As the stenosis becomes more severe, the systolic murmur peaks later in systole and the
ejection click moves closer to the first heart sound, eventually becoming virtually superimposed on it.
 In cases of moderate or severe pulmonary stenosis, the electrocardiogram shows right-axis deviation and right ventricular hypertrophy. Post-stenotic dilatation of the main
pulmonary artery and diminished pulmonary vascular markings are evident on radiography. The cardiac silhouette is usually normal in size. An enlarged cardiac silhouette may
be seen if the patient has right ventricular failure or tricuspid regurgitation. On echocardiography, right ventricular hypertrophy and paradoxical septal motion during systole
are evident. The site of obstruction can be visualized in most patients. With the use of Doppler flow studies, the severity of stenosis can usually be assessed, so that
catheterization and angiography are unnecessary.
 The presence or absence of symptoms, their severity, and the prognosis are influenced by the severity of stenosis, the right ventricular systolic function, and the competence of
the tricuspid valve.50 Adults with valvular pulmonary stenosis are often asymptomatic; in such patients the condition is identified by auscultation of a loud systolic murmur.
When the stenosis is severe, dyspnea on exertion or fatigability may occur; less often, patients may have retrosternal chest pain or syncope with exertion. Eventually, right
ventricular failure may develop, with resultant peripheral edema and abdominal swelling. Finally, if the foramen ovale is patent, shunting of blood from the right to the left
atrium may occur, causing cyanosis and clubbing.
 Adults with mild valvular pulmonary stenosis are usually asymptomatic; in such patients the condition does not require correction. Survival among such patients is excellent,
with 94 percent still alive 20 years after diagnosis.49 Patients with mild valvular stenosis who are undergoing elective dental or surgical procedures should receive antibiotic
prophylaxis against infective endocarditis. In contrast, patients with severe stenosis should have the stenosis relieved, since only 40 percent of such patients do not require any
intervention by 10 years after diagnosis.49Patients with moderate pulmonary stenosis have an excellent prognosis with either medical or interventional therapy.49
Interventional therapy is usually recommended, since most patients with moderate pulmonary stenosis eventually have symptoms requiring such therapy. Relief of valvular
stenosis can be accomplished easily and safely with percutaneous balloon valvuloplasty, and a delay in intervention offers no advantage. Balloon valvuloplasty, the procedure of
choice, is usually successful, provided the valve is mobile and pliant; its long-term results are excellent.51-55 The secondary hypertrophic subpulmonary stenosis that may occur
with valvular stenosis usually regresses after successful intervention.52,54 Valve replacement is required if the leaflets are dysplastic or calcified or if marked regurgitation is
present.
 Aortic Coarctation
 Coarctation of the aorta typically consists of a discrete,
diaphragm-like ridge extending into the aortic lumen just distal
to the left subclavian artery .
 This condition results in HT in the arms. Less commonly, the
coarctation is immediately proximal to the left subclavian artery,
in which case a difference in arterial pressure is noted between
the arms. Extensive collateral arterial circulation to the distal
body through the internal thoracic, intercostal, subclavian, and
scapular arteries frequently develops in pts with aortic
coarctation. The condition, which is 2-5 times as frequent in men
and boys as in women and girls, may occur in conjunction with
gonadal dysgenesis (e.g., Turner's syndrome), bicuspid aortic
valve, VSD, PDA, mitral stenosis or regurgitation, or aneurysms
of the circle of Willis.
. Coarctation of the Aorta.
Coarctation causes severe obstruction of blood flow in the descending thoracic aorta. The descending aorta and its branches are perfused by collateral channels from the axillary and internal
thoracic arteries through the intercostal arteries (arrows)
On physical examination, the systolic arterial pressure is
higher in the arms than in the legs, but the diastolic
pressures are similar; therefore, a widened pulse pressure is
present in the arms. The femoral arterial pulses are weak
and delayed. A systolic thrill may be palpable in the
suprasternal notch, and left ventricular enlargement may be
noted. A systolic ejection click (due to a bicuspid aortic
valve) is frequently present, and the second heart sound is
accentuated. A harsh systolic ejection murmur may be
identified along the left sternal border and in the back,
particularly over the coarctation. A systolic murmur, caused
by flow through collateral vessels, may be heard in the back.
In about 30% of pts with aortic coarctation, a systolic
murmur indicating an associated bicuspid aortic valve is
audible at the base.

 ECG , usually shows LVH. CXR: increased collateral flow
through the intercostal arteries causes notching of the
posterior 3rd of the third through eighth ribs; such notching is
usually symmetric. Notching is not seen in the anterior ribs,
since the anterior intercostal arteries are not located in costal
grooves. The coarctation may be visible as an indentation of
the aorta, and one may see prestenotic and poststenotic
dilatation of the aorta, producing the “reversed E” or “3” sign.
The coarctation may be visualized by echo, and Doppler
examination makes possible an estimate of the
transcoarctation pressure gradient. CT, MRI, and contrast
aortography provide precise anatomical information regarding
the location and length of the coarctation.


 Most adults with aortic coarctation are asymptomatic. The
diagnosis is made during routine physical examination, when
systemic arterial HT is observed in the arms, with diminished or
absent femoral arterial pulses. Symptoms :headache, epistaxis,
dizziness, and palpitations. Occasionally, diminished blood flow
to the legs causes claudication. Pts sometimes seek medical
attention because they have symptoms of heart failure or aortic
dissection. Women with coarctation are at particularly high risk
for aortic dissection during pregnancy.
 Complications of aortic coarctation include HT, LV failure, aortic
dissection, premature CAD, infective endocarditis, and CVA (due
to the rupture of an intracerebral aneurysm). 2/3 of pts over the
age of 40 years who have uncorrected aortic coarctation have
symptoms of heart failure. ¾ die by the age of 50, and 90% by
the age of 60.
 Surgical repair should be considered for pts with a transcoarctation
pressure gradient(pg) of > 30 mm Hg. Although balloon dilatation is
a therapeutic alternative, the procedure is associated with a higher
incidence of subsequent aortic aneurysm and recurrent coarctation
than surgical repair.
 Postoperative complications include: residual or recurrent HT,
recurrent coarctation. The incidence of persistent or recurrent HT, as
well as the survival rate, is influenced by the pt's age at the time of
surgery. Among pts who undergo surgery during childhood, 90 % are
normotensive 5 years later, 50 % are normotensive 20 years later In
contrast, among those who undergo surgery after the age of 40
years, 50% have persistent HT
 Similarly, survival after repair of aortic coarctation is also influenced
by the age of the pt at the time of surgery. After surgical repair
during childhood, 90 % of pts are alive 15 years later and 83 %are
alive 25 years later. When repair of coarctation is performed when
the pt is between 20 and 40 years, the 25-year survival is 75 %.
When repair is performed in pts more than 40 years old, the 15-year
survival is only 50 % .
