Persistent ductus arteriosus
AetiologyDuring fetal life, before the lungs begin to function, most of the blood from the pulmonary artery passes through the ductus arteriosus into the aorta .
Normally, the ductus closes soon after birth but sometimes fails to do so. Persistence of the ductus is associated with other abnormalities and is more common in females.
Clinical features
With small shunts there may be no symptoms for years, but when the ductus is large, growth and development may be retarded. Usually there is no disability in infancy but cardiac failure may eventually ensue, dyspnoea being the first symptom. A continuous ‘machinery’ murmur
is heard with late systolic accentuation, maximal in the second left intercostal space below the clavicle. It is frequently accompanied by a thrill.Pulses are increased in volume.
A large left-to-right shunt in infancy may cause a considerable rise in pulmonary artery pressure, and sometimes this leads to progressive pulmonary vascular damage. Enlargement of the pulmonary artery may be detected radiologically. The ECG is usually normal.
Persistent ductus with reversed shunting
If pulmonary vascular resistance increases, pulmonary artery pressure may rise until it equals or exceeds aortic pressure. The shunt through the defect may thenreverse, causing Eisenmenger’s syndrome. The murmur
becomes quieter, may be confined to systole or may disappear.
The ECG shows evidence of right ventricular hypertrophy.
Management
A patent ductus is closed at cardiac catheterisation with an implantable occlusive device. Closure should be undertaken in infancy if the shunt is significant and pulmonary resistance not elevated, but this may be delayed until later childhood in those with smaller shunts, for whom closure remains advisable to reduce the risk of endocarditis.Pharmacological treatment in the neonatal period
When the ductus is structurally intact, a prostaglandin synthetase inhibitor (indometacin or ibuprofen) may be used in the first week of life to induce closure. However,
in the presence of a congenital defect with impaired lung perfusion (e.g. severe pulmonary stenosis and left-to right shunt through the ductus), it may be advisable to improve oxygenation by keeping the ductus open with prostaglandin treatment. Unfortunately, these treatments do not work if the ductus is intrinsically abnormal.
Coarctation of the aorta
A coarctation of the aorta is a narrowing of the aorta at or just distal to the insertion of the ductus arteriosus (distal to the origin of the left subclavian artery. Rarely it can occur proximal to the left subclavian. It occurs twice as commonly in men as in women. It is also associated with Turner’s syndrome. In more than 50% of cases, the aortic valve is bicuspid (and potentially stenotic or endocarditic). Other associations include patent ductus arteriosus, ventricular septal defect, mitral stenosis or regurgitation and circle of Willis aneurysms.
Acquired coarctation of the aorta is rare but may follow trauma or occur as a complication of a progressive arteritis (Takayasu’s disease).
Clinical features and investigations
Aortic coarctation is an important cause of cardiac failure in the newborn, but symptoms are often absent when it is detected in older children or adults.
Headaches may occur from hypertension proximal to the coarctation,
and occasionally weakness or cramps in the legs may result from decreased circulation in the lower part of the body. The BP is raised in the upper body but normal or low in the legs. The femoral pulses are weak, and delayed in comparison with the radial pulse. A systolic murmur is usually heard posteriorly, over the coarctation. There may also be an ejection click and systolic murmur in the aortic area due to a bicuspid aortic valve. As a result of the aortic narrowing, collaterals
form and mainly involve the periscapular, internal mammary and intercostal arteries, and may result in localized bruits.
Investigations
Chest X-ray may reveal a dilated aorta indented at the site of the coarctation. This is manifested by an aorta (seen in the upper right mediastinum) shaped like a ‘figure 3’. In adults, tortuous and dilated collateral intercostal arteries may erode the undersurfaces of the ribs (‘rib notching’).
ECG demonstrates left ventricular hypertrophy. Echocardiography sometimes shows the coarctation and other associated anomalies. CT and CMR scanning can accurately demonstrate the coarctation and quantify flow.
Management
Intervention is required if there is a peak–peak gradient across the coarctation of >20 mmHg and/or proximal hypertension.
In neonates coarctation is treated with surgical repair. In older children and adults, balloon dilatation and stenting is an option although many centres still prefer surgery. Balloon dilatation is preferred for recoarctation. Patients repaired in late childhood or adult life often remain
hypertensive or develop recurrent hypertension later on.
Cyanotic congenital heart disease
Fallot’s tetralogy
Tetralogy of Fallot consists of:
A large malaligned VSD
An overriding aorta
Right ventricular outflow tract obstruction most often subvalvular (infundibular) but may be valvular, supravalvular or a combination of these
Right ventricular hypertrophy.
Aetiology
The embryological cause is abnormal development of the bulbar septum which separates the ascending aorta from the pulmonary artery, and which normally aligns and fuses with the outflow part of the interventricular septum. The defect occurs in about 1 in 2000 births and
is the most common cause of cyanosis in infancy after the first year of life.
Clinical features
Children are usually cyanosed but this may not be the case in the neonate because it is only when right ventricular pressure rises to equal or exceed left ventricular pressure that a large right-to-left shunt develops.
The subvalvular component of the RV outflow obstruction is dynamic and may increase suddenly under adrenergic stimulation. The affected child suddenly becomes increasingly cyanosed, often after feeding or a crying attack, and may become apnoeic and unconscious. These attacks are called ‘Fallot’s spells’.
In older children, Fallot’s spells are uncommon but cyanosis becomes
increasingly apparent, with stunting of growth, digital clubbing and polycythaemia. Some children characteristically obtain relief by squatting after exertion, which increases the afterload of the left heart and reduces the right-to-left shunting: Fallot’s sign.
The natural history before the development of surgical correction was variable but most patients died in infancy or childhood.
On examination the most characteristic feature is the combination of cyanosis with a loud ejection systolic murmur in the pulmonary area (as for pulmonary stenosis).
However, cyanosis may be absent in the newborn or in patients with only mild right ventricular outflow obstruction (‘acyanotic tetralogy of Fallot’).
Investigations and management
The ECG shows right ventricular hypertrophy and the chest X-ray shows an abnormally small pulmonary artery and a ‘boot-shaped’ heart. Echocardiography is diagnostic and demonstrates that the aorta is not continuous with the anterior ventricular septum.
The definitive management is total correction of the defect by surgical relief of the pulmonary stenosis and closure of the ventricular septal defect.
The prognosis after total correction is good, especially if the operation is performed in childhood. Followup is needed to identify residual shunting, recurrent pulmonary stenosis and rhythm disorders