Congenital Heart Disease in 49, XXXXY Syndrome

Abstract

Since the initial report of the 49,XXXXY karyotype nearly 15 years ago, 86 cases have been reported in the world literature. The major features of the syndrome have been noted to be a triad of skeletal anomalies, hypogenitalism, and moderate-to-severe mental retardation. Among the less commonly associated abnormalities has been congenital heart disease, reported to have been seen in no more than 14 cases. The most frequently described lesion has been patent ductus arteriosus (PDA). We have recently seen two patients with the 49,XXXXY syndrome with associated congenital heart disease. This communication describes these two patients and reviews the literature to attempt to determine the actual frequency and types of congenital heart disease seen in this syndrome.