Congenital heart disease associated with sporadic Kallmann syndrome

✍ Scribed by Cortez, Alan B. ;Galindo, Alvaro ;Arensman, Frederick W. ;van Dop, Cornelis

• Publisher: John Wiley and Sons
• Year: 1993
• Tongue: English
• Weight: 409 KB
• Volume: 46
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320460518

✦ Synopsis

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 abnormalities were short with height 2-2 standard deviations below the mean for age (5/7), lacked a family history of Kallmann syndrome (6/6), and were mentally retarded (414). Patients presenting with Kallmann syndrome and congenital heart defects appear to represent a distinct subgroup of patients with Kallmann syndrome. The cause of this association is unclear, but may involve either auto-soma1 recessive inheritance, sporadic domi- nant mutation, or a shared teratogenic event during the first trimester of gestation.