Pulmonary Atresia With Ventricular Septal Defect Clinical Presentation

Updated: Jan 10, 2022
  • Author: Edwin Rodriguez-Cruz, MD; Chief Editor: Stuart Berger, MD  more...
  • Print

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:

  • 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.

  • A continuous murmur is best heard over the upper chest in the presence of a PDA.

  • If systemic-to-pulmonary collateral arteries are present, continuous murmurs may be diffusely audible over the entire chest and back.

  • In some patients with severe cyanosis, no murmur can be heard.

  • An early diastolic murmur of aortic regurgitation may be noted.