Aortopulmonary septal defect/ window (APW), a conotruncal anomaly, is a rare cardiac malformation that accounts for 0.1%-0.2% of congenital cardiac defects and results from abnormal communication between the aorta and the pulmonary arteries in the presence of two normally separated semilunar valves. The natural history of an unrepaired APW is approximately 40% mortality within the first year of life due to congestive cardiac failure and pulmonary hypertension. An APW may be isolated or, in up to 80% of cases, with concomitant cardiovascular anomaly.
We report an early prenatal diagnosis of type-A APW and tubular hypoplasia of the aortic arch noted at 15 weeks gestation. The evaluation was prompted by abnormal nuchal translucency. No other anomalies were detected in the repeated prenatal ultrasounds. Amniocentesis for chromosomal microarray was normal. Ventricular size and contraction were normal throughout the pregnancy.
A male newborn was delivered at 41 weeks, weight 3680gr, Apgar score 9/9.
Prostaglandin E1 was initiated immediately after birth and echocardiogram confirmed an APW, aortic arch hypoplasia and Coarctation. At surgery, the tight Coarctation and APW were repaired by pericardial patches and end-to-side anastomosis of the arch. His postoperative course was uneventful.
Early diagnosis of APW and hypoplasia/ interruption of the aortic arch, one of the most common concomitant anomalies, is possible and highly desirable. Prenatal detection facilitates counseling and selection of an appropriate setting for perinatal care. Accordingly, newborn prognosis is likely to improve with reduced morbidity and morbidity from congestive heart failure, pulmonary hypertension and neurological sequela.
