The common major cardiovascular defects associated with DiGeorge anomaly (DGA) are: interrupted aortic arch type B (30%), persistent truncus arteriosus (23%), and tetralogy of Fallot (21%) [Van Mierop and Kutsche, 19861. Other defects such as transposition of great arteries, and isolated ventricular septal defects (VSD) occur less frequently. The mechanism of this constellation of anomalies is postulated to be an abnormality of neural crest cells which participate in the formation of the walls of the branchial arches and their arteries, thus contributing to the development of the thymus, parathyroids and the aortic arch [Johnston, 19931. These cells are also critical to the development of the aortopulmonary and truncoconal septae [Kirby et al., 1983, 19851. In view of these observations, it is not surprising that defects of the venous pole of the heart are not encountered in DGA, but the defects of the arterial pole are common. Atrioventricular septal defect (AVSD) is very unusual in DGA. We describe a patient with complete AVSD associated with pulmonary atresia, right-sided aortic arch, and complex anatomy of the pulmonary arteries in association with DGA, secondary to maternal diabetes.
A baby girl was born to a 24-year-old gr4 mother at 37 weeks of gestation. The mother had poorly controlled insulin-dependent diabetes mellitus during pregnancy. She denied any history of alcohol intake or retinoic acid exposure during pregnancy. The mother also had pregnancy-induced hypertension. The infant was noted to be cyanotic soon after birth. An echocardiogram showed a complete AVSD with common atrioventricular valve (Rastelli type C), a large ostium primum type atrial septal defect, a large inlet VSD and equally divided ventricles, a second large midmuscular VSD, and an