Pulmonary Atresia with Intact Ventricular Septum and Major Aortopulmonary Collaterals: Association with Deletion 22q11.2

We describe the first association of pulmonary atresia, intact ventricular septum, and absent central pulmonary arteries with deletion 22q11.2. The pulmonary blood flow was derived from major aortopulmonary collaterals. The role of the deletion in pulmonary arborization is discussed.