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-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.
Cortez
A B
AB
Division of Pediatric Endocrinology, UCLA School of Medicine.
Galindo
A
A
Arensman
F W
FW
Van Dop
C
C
D000293:Adolescent; D006319:Hearing Loss, Sensorineural / Q000150:complications; D006330:Heart Defects, Congenital / Q000150:complications* / Q000601:surgery; D016027:Heart Transplantation; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D017436:Kallmann Syndrome / Q000150:complications*; D008297:Male