Aortopulmonary Window With Pulmonary Atresia: A Very Rare Association

Abstract

Aortopulmonary window (APW) is a rare congenital cardiac malformation accounting for 0.1–0.2 % of all cardiac defects in live births [1]. When APW is combined with other cardiac malformations, diagnosis is a challenge [1]. A 27-day-old, full-term child with a birth weight of 2.3 kg, which is small for gestation age, presented on day 15 of life with history of feeding difficulty and features of congestive heart failure. The oxygen saturation was 90 %, and the child was tachypnic. The findings showed respiratory rates of 70 breaths/min with minimal retractions, tachycardia with heart rates of 160 beats/min, and significant hepatomegaly. There were no signs of extracardiac malformations. Echocardiography showed valvular pulmonary atresia, confluent and adequate-sized branch pulmonary arteries, right and left pulmonary arteries each 4.5 mm in size (expected size, 4 mm), nonrestricted perimembranous ventricular septal defect (VSD) extending to the outlet muscular septum, bidirectional shunting, and a 5 mm fossa ovalis atrial septal defect with left-to-right shunting. The child had aortic override exceeding 50 %. The aortic arch was right sided with flow reversal in the arch. There was a large distal type anteroposterior window with laminar flow (Figs. 1, 2, 3). The differential diagnosis of a common arterial trunk type 1 could be ruled out as atretic pulmonary valve was clearly seen. Due to progressive signs of congestive heart failure despite adequate medical treatment, surgical correction was indicated and performed successfully. The findings were confirmed intraoperatively. In the setting of APW, pulmonary atresia remains a diagnostic challenge because the echocardiographic imaging of pulmonary atresia does not correspond to the clinical features of increased pulmonary blood flow. This particular setting should alert the clinician to investigate for an associated lesion such as APW. A case of APW in a fetus, with detection of pulmonary atresia, also has been reported. A diagnosis of APW associated with tetralogy of Fallot has been reported in 22 cases to date, seven of which had pulmonary atresia [2–5]. Most reported cases of isolated or combined forms of APW have been treated with surgery in infancy or later childhood. Therefore, early surgical intervention for complex lesions such as APW with additional intracardiac defects can be performed successfully in one step.