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Acyanotic Congenital Heart Disease

Left- to-Right Shunt Lesions

1. Aorticopulmonary Window Defect

Consists of a communication between the ascending aorta and the main pulmonary artery.
The presence of pulmonary and aortic valves and an intact ventricular septum distinguishes this
anomaly from truncus arteriosus.
Symptoms of heart failure appear during early infancy; occasionally, minimal cyanosis is present.
The defect is usually large, and the cardiac murmur is usually systolic with an apical mid-diastolic
rumble as a result of the increased blood flow across the mitral valve.
The electrocardiogram shows either left ventricular or biventricular hypertrophy.
Radiographic studies demonstrate cardiac enlargement and prominence of the pulmonary artery
and intrapulmonary vasculature.
The echocardiogram shows enlarged left-sided heart chambers; the window defect can best be
delineated with color flow Doppler.
CT or MRI angiography can also be utilized to visualize the defect.
Cardiac catheterization, usually performed in older children to evaluate pulmonary vascular
resistance, reveals a left-to-right shunt at the level of the pulmonary artery, as well as
hyperkinetic pulmonary hypertension.
Selective aortography with injection of contrast medium into the ascending aorta demonstrates
the lesion, and manipulation of the catheter from the main pulmonary artery directly to the
ascending aorta is also diagnostic.
An aorticopulmonary window defect is surgically corrected during infancy. If surgery is not
carried out in infancy, survivors carry the risk of progressive pulmonary vascular obstructive
disease, similar to that of other patients who have large intracardiac or great vessel
communications.
2. Coronary-Cameral Fistula
A congenital fistula may exist between a coronary artery and an atrium, ventricle (especially the
right), or pulmonary artery. Sometimes, multiple fistulas exist.
The clinical signs are similar to those of PDA, although the machinery-like murmur may be more
diffuse. If the flow is substantial, the involved coronary artery may be dilated or aneurysmal.
The anatomic abnormality is usually demonstrable by color flow Doppler echocardiography and,
during catheterization, by injection of contrast medium into the ascending aorta.
Small fistulas may be hemodynamically insignificant and may even close spontaneously.
If the shunt is large, treatment consists of either transcatheter coil embolization or, for lesions
not amenable to catheter intervention, surgical closure of the fistula.
3. Ruptured Sinus of Valsalva Aneurysm
When one of the sinuses of Valsalva of the aorta is weakened by congenital or acquired disease,
an aneurysm may form and eventually rupture, usually into the right atrium or ventricle. This
condition is extremely rare in childhood.
The onset is usually sudden.
The diagnosis should be suspected in a patient in whom symptoms of acute heart failure develop
in association with a new loud to-and-fro murmur.
Color Doppler echocardiography and cardiac catheterization demonstrate the left-to-right shunt
at the atrial or ventricular level.
Urgent surgical repair is generally required.
This condition is often associated with infective endocarditis of the aortic valve.

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Obstructive Lesions

1. Pulmonary Valve Stenosis with Intact Ventricular Septum

Of the various forms of right ventricular outflow obstruction with an intact ventricular septum,
the most common is isolated valvular pulmonary stenosis, which accounts for 7-10% of all
congenital heart defects.
The valve cusps are deformed to various degrees and, as a result, the valve opens incompletely
during systole.
The valve may be bicuspid or tricuspid and the leaflets partially fused together with an eccentric
outlet.
This fusion may be so severe that only a pinhole central opening remains. If the valve is not
severely thickened, it produces a dome-like obstruction to right ventricular outflow during
systole.
Isolated infundibular or subvalvular stenosis, supravalvular pulmonary stenosis, and branch
pulmonary artery stenosis are also encountered.
In cases where pulmonary valve stenosis is associated with a ventricular septal defect (VSD) but
without anterior deviation of the infundibular septum and overriding aorta, this condition is
better classified as pulmonary stenosis with VSD rather than as tetralogy of Fallot.
Pulmonary stenosis and an atrial septal defect (ASD) are also occasionally seen as associated
defects.
The clinical and laboratory findings reflect the dominant lesion, but it is important to rule out any
associated anomalies.
Pulmonary stenosis as a result of valve dysplasia is the most common cardiac abnormality in
Noonan syndrome, and is associated in about 50% of cases with a mutation in the gene PTPN11,
encoding the protein tyrosine phosphotase SHP-2 on chromosome 12.
The mechanism for pulmonic stenosis is unknown, although maldevelopment of the distal
portion of the bulbus cordis and the sequelae of fetal endocarditis have been suggested as
etiologies.
Pulmonary stenosis, either of the valve or the branch pulmonary arteries, is a common finding in
patients with arteriohepatic dysplasia, also known as Alagille syndrome. In this syndrome and in
some patients with isolated pulmonic stenosis, a mutation is present in the Jagged1 gene.
2. Infundibular Pulmonary Stenosis and Double-Chamber Right Ventricle
Infundibular pulmonary stenosis is caused by muscular or fibrous obstruction in the outflow tract
of the right ventricle.
The site of obstruction may be close to the pulmonary valve or well below it; an infundibular
chamber may be present between the right ventricular cavity and the pulmonary valve.
In many cases, a VSD may have been present initially and later closed spontaneously. When the
pulmonary valve is also stenotic, the combined defect is primarily classified as valvular stenosis
with secondary infundibular hypertrophy.
The hemodynamics and clinical manifestations of patients with isolated infundibular pulmonary
stenosis are similar to those of isolated valvular pulmonary stenosis.
A common variation in right ventricular outflow obstruction below the pulmonary valve is that of
a double-chambered right ventricle. In this condition, a muscular band is present in the mid-right
ventricular region; the band divides the chamber into two parts and creates obstruction
between the inlet and outlet portions.
Obstruction is not usually seen early in life but may progress rapidly in a similar manner to the
progressive infundibular obstruction observed with tetralogy of Fallot.
The diagnosis is usually made by echocardiography. The ventricular septum must be evaluated
carefully to determine whether an associated VSD is present.

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The prognosis for untreated cases of severe right ventricular outflow obstruction is similar to
that for valvular pulmonary stenosis.
When the obstruction is moderate to severe, surgery is indicated. After surgery, the pressure
gradient is abolished or markedly reduced and the long-term outlook is excellent.
3. Pulmonary Stenosis in Combination with an Intracardiac Shunt
Valvular or infundibular pulmonary stenosis, or both, may be associated with either an ASD or a
VSD. In these patients, the clinical features depend on the degree of pulmonary stenosis, which
determines whether the net shunt is from left to right or from right to left.
The presence of a large left-to-right shunt at the atrial or ventricular level is evidence that the
pulmonary stenosis is mild. These patients have symptoms similar to those of patients with an
isolated ASD or VSD.
With increasing age, worsening of the obstruction may limit the shunt and result in a gradual
improvement in symptoms.
Eventually, particularly in patients with pulmonary stenosis and VSD, a further increase in
obstruction may lead to right-to-left shunting and cyanosis.
When a patient with a VSD has evidence of decreasing heart failure and increased right
ventricular forces on the electrocardiogram, one must differentiate between the development of
increasing pulmonary stenosis versus the onset of pulmonary vascular disease.
These anomalies are readily repaired surgically. Defects in the atrial or ventricular septum are
closed, and the pulmonary stenosis is relieved by resection of infundibular muscle or pulmonary
valvotomy, or both, as indicated.
Patients with a predominant right-to-left shunt have symptoms similar to those of patients with
tetralogy of Fallot.
4. Peripheral Pulmonary Stenosis
Single or multiple constrictions may occur anywhere along the major branches of the pulmonary
arteries and may range from mild to severe and from localized to extensive.
Frequently, these defects are associated with other types of congenital heart disease, including
valvular pulmonic stenosis, tetralogy of Fallot, patent ductus arteriosus (PDA), VSD, ASD, and
supravalvular aortic stenosis.
A familial tendency has been recognized in some patients with peripheral pulmonic stenosis. A
high incidence is found in infants with congenital rubella syndrome.
The combination of supravalvular aortic stenosis with pulmonary arterial branch stenosis,
idiopathic hypercalcemia of infancy, elfin facies, and mental retardation is known as Williams
syndrome, a condition associated with deletion of the elastin gene in region 7q11.23 on
chromosome 7.
Peripheral pulmonary stenosis is also associated with the Alagille syndrome, which may be
associated with a mutation in the Jagged1 gene.
A mild constriction has little effect on the pulmonary circulation. With multiple severe
constrictions, pressure is increased in the right ventricle and in the pulmonary artery proximal to
the site of obstruction.
When the anomaly is isolated, the diagnosis is suspected by the presence of murmurs in
widespread locations over the chest, either anteriorly or posteriorly. These murmurs are usually
systolic ejection in quality but may be continuous. Most often, the physical signs are dominated
by the associated anomaly, such as tetralogy of Fallot.
In the immediate newborn period, a mild and transient form of peripheral pulmonic stenosis
may be present. Physical findings are generally limited to a soft systolic ejection murmur, which
can be heard over either or both lung fields. It is the absence of other physical findings of
valvular pulmonic stenosis that supports the diagnosis. This murmur usually disappears by 1-2
mo.

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If the stenosis is severe, the electrocardiogram shows evidence of right ventricular and right
atrial hypertrophy, and the chest radiograph shows cardiomegaly and prominence of the main
pulmonary artery. The pulmonary vasculature is usually normal.
Echocardiography is limited in its ability to visualize the distal branch pulmonary arteries.
Doppler examination demonstrates the acceleration of blood flow through the stenoses and, if
tricuspid regurgitation is present, allows an estimation of right ventricular systolic pressure.
MRI and CT are extremely helpful in delineating distal obstructions; if moderate to severe
disease is suspected, the diagnosis is usually confirmed by cardiac catheterization.
Severe obstruction of the main pulmonary artery and its primary branches can be relieved during
corrective surgery for associated lesions such as the tetralogy of Fallot or valvular pulmonary
stenosis.
If peripheral pulmonic stenosis is isolated, it may be treated by catheter balloon dilatation,
sometimes with placement of an intravascular stent.
5. Aortic Stenosis
Accounts for 5% of cardiac malformations recognized in childhood; a bicuspid aortic valve is
identified in up to 1.5% of adults and may be asymptomatic in childhood. AS is more frequent in
males (3:1).
In the most common form, valvular aortic stenosis, the leaflets are thickened and the
commissures are fused to varying degrees. Left ventricular systolic pressure is increased as a
result of the obstruction to outflow. The left ventricular wall hypertrophies in compensation; as
its compliance decreases, end-diastolic pressure increases as well.
Subvalvular (subaortic) stenosis with a discrete fibromuscular shelf below the aortic valve
o This lesion is frequently associated with other forms of congenital heart disease such as
mitral stenosis and coarctation of the aorta (Shone syndrome) and may progress rapidly
in severity.
o It is less commonly diagnosed during early infancy and may develop despite previous
documentation of no left ventricular outflow tract obstruction.
o May become apparent after successful surgery for other congenital heart defects
(coarctation of the aorta, PDA, VSD), may develop in association with mild lesions that
have not been surgically repaired, or may occur as an isolated abnormality.
o May also be due to a markedly hypertrophied ventricular septum in association with
hypertrophic cardiomyopathy.
Supravalvular aortic stenosis,
o The least common type, may be sporadic, familial, or associated with Williams
syndrome, which includes mental retardation (IQ range 41-80), elfin facies (full face,
broad forehead, flattened bridge of the nose, long upper lip, and rounded cheeks), and
idiopathic hypercalcemia of infancy.
o Additional features include loquacious personality, hypersensitivity to sound, spasticity,
hypoplastic nails, dental anomalies (partial anodontia, microdontia enamel hypoplasia),
joint hypermobility, nephrocalcinosis, hypothyroidism, and poor weight gain.
o Narrowing of the coronary artery ostia can occur in patients with supravalvar aortic
stenosis and should be carefully evaluated.
o Stenosis of other arteries, in particular, the branch pulmonary arteries, may also be
present.
o Williams syndrome has been shown to be due to a deletion involving the elastin gene
on chromosome 7q11.23.

Reference:
Nelson, Textbook of Pediatrics 19th Edition