Congenital heart disease associated with sporadic Kallmann syndrome

Am J Med Genet. 1993 Jun 15;46(5):551-4. doi: 10.1002/ajmg.1320460518.


A 17-year-old boy with Kallmann syndrome had complex congenital heart disease that included double-outlet right ventricle, d-mal-position 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 > or = 2 standard deviations below the mean for age (5/7), lacked a family history of Kallmann syndrome (6/6), and were mentally retarded (4/4). 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 autosomal recessive inheritance, sporadic dominant mutation, or a shared teratogenic event during the first trimester of gestation.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adolescent
  • Hearing Loss, Sensorineural / complications
  • Heart Defects, Congenital / complications*
  • Heart Defects, Congenital / surgery
  • Heart Transplantation
  • Humans
  • Intellectual Disability / complications
  • Kallmann Syndrome / complications*
  • Male