Aortopulmonary window associated with complete atrioventricular septal defect

Abstract

Aortopulmonary (AP) window and atrioventricular (AV) septal defect are congenital cardiovascular defects that typically occur without major associated cardiac anomalies but in a minority of cases are found in conjunction with a variety of other lesions. We describe the case history of an infant with coexisting AP window and complete AV septal defect who underwent complete primary repair at 3 months of age. To our knowledge, this combination of congenital cardiovascular defects has not previously been described. Clinical summary. The patient was born at 37 weeks’ estimated gestational age by spontaneous vaginal delivery, with a birth weight of 3.0 kg and Apgar scores of 8 at 1 minute and 9 at 5 minutes. At 2 months of age, she was referred for cardiac evaluation because of a cardiac murmur and failure to thrive. She weighed 3.4 kg and was feeding poorly. On evaluation, she was found to be nondysmorphic. Cardiac examination disclosed a grade 3/6 holosystolic murmur, a right ventricular heave, a diastolic rumble over the apex of the heart, and a gallop. The oxyhemoglobin saturation was 97% on room air, and the heart rate and blood pressure were within the normal ranges for age. The electrocardiogram showed a normal sinus rhythm, left axis deviation, right atrial enlargement, biventricular hypertrophy, and nonspecific changes in the ST segment. The echocardiogram demonstrated a Rastelli type C complete AV septal defect with large atrial and ventricular components and moderate regurgitation of the left-sided component of the common AV valve, along with a left-sided superior caval vein draining to the right atrium via an enlarged coronary sinus. The patient was initially managed medically with digoxin and furosemide, but there was little improvement in her growth. At the age of 3 months, a repeat echocardiogram confirmed the prior diagnosis but also revealed a large AP window between the proximal pulmonary trunk and ascending aorta, with continuous left-to-right shunting. Cardiac catheterization was performed to assess her hemodynamic