Diagnostic Considerations

Distinguishing characteristics for the diagnosis of pulmonary atresia with ventricular septal defect can be divided into two major groups, as summarized below.

Decreased pulmonary blood flow in a neonate with cyanosis

Associated defects may include the following:

Severe tetralogy of Fallot
Transposition of the great arteries with pulmonary stenosis
Tricuspid atresia
A double-outlet RV with severe pulmonary stenosis
A single ventricle with severe pulmonary stenosis
Total anomalous pulmonary venous connection with pulmonary venous obstruction

Normal or increased pulmonary blood flow in a neonate with minimal cyanosis with or without heart failure

Associated defects may include the following:

Ventricular septal defect
Patent ductus arteriosus
AV canal defect
A double-outlet RV without significant pulmonary stenosis
A single ventricle without significant pulmonary stenosis
Persistent truncus arteriosus
Total anomalous pulmonary venous connection without pulmonary venous obstruction

Consult a pediatric cardiologist, a pediatric cardiothoracic surgeon, and a geneticist.

Differential Diagnoses

Workup

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Media Gallery

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).
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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).
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.