CONGENITAL HEART-DISEASE ASSOCIATED WITH SPORADIC KALLMANN SYNDROME

A 17-year-old boy with Kallmann syndrome had complex congenital heart disease that included double-outlet right ventricle, d-malposition of the great arteries, right aortic arch, and hypoplastic main pulmonary artery. He had neurosensory hearing loss and mental retardation. The 7 previously reported patients with Kallmann syndrome and cardiac abnor malities were short with height greater-than-or-equal-to 2 standard de viations below the mean for age (5/7), lacked a family history of Kall mann syndrome (6/6), and were mentally retarded (4/4). Patients presen ting with Kallmann syndrome and congenital heart defects appear to rep resent a distinct subgroup of patients with Kallmann syndrome. The cau se of this association is unclear, but may involve either autosomal re cessive inheritance, sporadic dominant mutation, or a shared teratogen ic event during the first trimester of gestation.