Cardiac malformations associated with Down's syndrome

Abstract

A review of 55 specimens with congenital heart disease from subjects with Down's syndrome (mongolism) showed a variety of malformations. For each case a major anomaly was identified and, when present, additional anomalies were recorded. The three leading types of major anomalies, in order of decreasing frequency, were persistent common atrioventricular canal (60%), isolated ventricular septal defect (29%), and tetralogy of Fallot either alone or in association with persistent common atrioventricular canal (14.5%). Of the additional anomalies, the most common took the form either of an atrial septal defect at the fossa ovalis (50%) or patent ductus arteriosus (47%).