History and Physical Examination
Children born with pulmonary atresia and ventricular septal defect (PA-VSD) may have unpredictable presentations owing to the variability of the lesion.
The age at presentation may vary depending on the amount of pulmonary blood flow. However, the great majority of patients present in the newborn period after the closure of the ductus arteriosus. Late presentation may rarely occur, and findings may include polycythemia, clubbing, cerebral embolisms, and cerebral abscesses.
The vast majority of patients present in infancy with cyanosis and hypoxia. The degree of cyanosis depends on whether the ductus is patent and how extensive the systemic collateral arteries are. Rarely, an infant with a large PDA or well-developed systemic collateral arteries may present at age 4-6 weeks with heart failure symptoms secondary to increased pulmonary blood flow. This heart failure may be very difficult to control medically. Paroxysms of dyspnea and squatting occasionally occur in older children.
Hemoptysis may occur as a result of rupture of extensive systemic-to-pulmonary collateral arteries. Important and recurrent infections can occur because of immunodeficiency, especially if associated with DiGeorge syndrome. Survival to adulthood has been described in a few patients with well-developed collateral arteries.
Growth and development are usually delayed secondary to cyanosis or congestive heart failure (CHF).
Central (ie, perioral) cyanosis is usually mild at birth, but it becomes very severe with the closure of the PDA. Cyanosis may fluctuate for the first few days because the ductus arteriosus may constrict and relax intermittently. The patient may have anomalies of the face, palate, and ears as described in velocardiofacial syndrome. Peripheral pulses are usually normal in neonates and remain normal in cyanotic infants. In infants with wide-open PDAs, well-developed systemic collateral arteries, or surgically created shunts, pulses may become pronounced after 4-6 weeks because of a wide pulse pressure.
The following may be observed on auscultation:
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S1 is normal; S2 (ie, aortic valve closure) is always single and often accentuated. A grade 3/6 systolic murmur usually is audible along the lower left sternal border.
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A continuous murmur is best heard over the upper chest in the presence of a PDA.
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If systemic-to-pulmonary collateral arteries are present, continuous murmurs may be diffusely audible over the entire chest and back.
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In some patients with severe cyanosis, no murmur can be heard.
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An early diastolic murmur of aortic regurgitation may be noted.
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Pulmonary Atresia With Ventricular Septal Defect. Management algorithm for patients with pulmonary atresia with ventricular septal defect (PA-VSD) and major aortopulmonary collateral arteries (MAPCAs), based on the nature of pulmonary vascular supply. PAs = pulmomary arteries. Courtesy of Elsevier (Gupta A, Odim J, Levi D, Chang RK, Laks H. Staged repair of pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries: Experience with 104 patients. J Thorac Cardiovasc Surg. 2003;126(6):1746–52).
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Pulmonary Atresia With Ventricular Septal Defect. Anteroposterior still image obtained from angiography in the aortic arch of a 3-week-old infant born with pulmonary atresia with ventricular septal defect (PA-VSD) who is receiving a prostaglandin E infusion. A patent ductus arteriosus (PDA) is seen supplying confluent branch pulmonary arteries. Courtesy of Dr Thomas Forbes.
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Pulmonary Atresia With Ventricular Septal Defect. Anteroposterior angiographic view in the aortic arch of a 3-week-old infant born with pulmonary atresia with ventricular septal defect (PA-VSD) who is receiving a prostaglandin E infusion. A patent ductus arteriosus (PDA) is seen supplying confluent branch pulmonary arteries. Courtesy of Dr Thomas Forbes.
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Pulmonary Atresia With Ventricular Septal Defect. Anteroposterior still image obtained from angiography in a 3.5-mm right modified Blalock–Taussig (BT) shunt in the previous patient at age 4 months. There is a patent BT shunt with mild proximal right upper lobe and right lower lobe branch stenoses. Courtesy of Dr Thomas Forbes.
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Pulmonary Atresia With Ventricular Septal Defect. Anteroposterior angiographic view in a 3.5-mm right modified Blalock–Taussig (BT) shunt in the previous patient at age 4 months. There is a patent BT shunt with mild proximal right upper lobe and right lower lobe branch stenoses. Courtesy of Dr Thomas Forbes.
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Pulmonary Atresia With Ventricular Septal Defect. Lateral still image obtained from angiography in the previous patient at age 21 months. The infant underwent Rastelli operation with placement of a 15-mm pulmonary homograft. In this image, there is free homograft insufficiency without stenosis. Courtesy of Dr Thomas Forbes.
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Pulmonary Atresia With Ventricular Septal Defect. Lateral angiographic view in the previous patient at age 21 months. The infant underwent Rastelli operation with placement of a 15-mm pulmonary homograft. The presence of free homograft insufficiency with no stenosis is observed. Courtesy of Dr Thomas Forbes.
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Pulmonary Atresia With Ventricular Septal Defect. Lateral still image obtained from angiography in a 7-year-old boy born with pulmonary atresia with ventricular septal defect (PA-VSD) who underwent Rastelli operation with a 17-mm right ventricle to pulmonary artery (RV-PA) homograft. There is mild proximal conduit stenosis and free conduit insufficiency. The right ventricle appears moderately dilated. Courtesy of Dr Thomas Forbes.
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Pulmonary Atresia With Ventricular Septal Defect. Lateral angiographic view in a 7-year-old boy born with pulmonary atresia with ventricular septal defect (PA-VSD) who underwent Rastelli operation with a 17-mm right ventricle to pulmonary artery (RV-PA) homograft. There is mild proximal conduit stenosis and free conduit insufficiency. The right ventricle appears moderately dilated. Courtesy of Dr Thomas Forbes.
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Pulmonary Atresia With Ventricular Septal Defect. Lateral still image from angiography in the previous patient at age 8 years following Melody valve placement in the prestented 17-mm right ventricle to pulmonary artery (RV-PA) homograft. The Melody valve appears in good position. There is no Melody valve insufficiency. Courtesy of Dr Thomas Forbes.
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Pulmonary Atresia With Ventricular Septal Defect. Lateral angiographic view in the previous patient at age 8 years following Melody valve placement in the prestented 17-mm right ventricle to pulmonary artery (RV-PA) homograft. The Melody valve appears in good position. There is no Melody valve insufficiency. Courtesy of Dr Thomas Forbes.
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Pulmonary Atresia With Ventricular Septal Defect. Left anterior oblique ventriculogram in a patient (same patient as in the next image) with pulmonary atresia with ventricular septal defect (PA-VSD). The angiogram shows the left and right ventricles with a large malalignment VSD between them. The only outflow from the heart is the aorta. No evidence of pulmonary blood flow is observed arising from the ventricles directly to the lungs. Asc Ao = ascending aorta; Desc Ao = descending aorta; LV = left ventricle; and RV = right ventricle.
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Pulmonary Atresia With Ventricular Septal Defect. Anteroposterior view of an aortogram in a patient (same patient as in the previous image) with pulmonary atresia with ventricular septal defect (PA-VSD). The pulmonary circulation is supplied by collateral vessels (Collaterals) that arise from the descending aorta (Desc Ao).
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Pulmonary Atresia With Ventricular Septal Defect. Short-axis parasternal view (1) and diagram (3) in a patient with pulmonary atresia and ventricular septal defect (PA-VSD). Short-axis parasternal view (2) and diagram (4) in a patient with normal anatomy. LA = left atrium; PA = pulmonary artery; PV = pulmonary valve; RA = right atrium; RV = right ventricle; and TR = tricuspid valve.
