Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease.

S D Solomon; J A Jarcho; W McKenna; A Geisterfer-Lowrance; R Germain; R Salerni; J G Seidman; C E Seidman

doi:10.1172/JCI114802

Cardiovascular Division, Brigham & Women's Hospital, Boston, Massachusetts 02115.

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Published in Volume 86, Issue 3 on September 1, 1990
J Clin Invest. 1990;86(3):993–999. https://doi.org/10.1172/JCI114802.
© 1990 The American Society for Clinical Investigation

Published September 1, 1990 - Version history

We demonstrate that familial hypertrophic cardiomyopathy (FHC), an autosomal dominant disorder of heart muscle, is a genetically heterogeneous disease. The locus responsible for FHC in members of one large kindred was recently mapped to chromosome 14q11-12 (FHC-1). We have characterized three additional unrelated families in which the gene for FHC segregates as an autosomal dominant trait to determine if these disease loci also map to FHC-1. All family members were clinically studied by physical examination, electrocardiogram, and two-dimensional echocardiography. Genetic studies were performed using DNA probes which are derived from loci that are closely linked to FHC-1. In one family the genetic defect maps to the previously identified FHC-1 locus. However, the loci responsible for FHC in two other families were not linked to FHC-1. We conclude that FHC can be caused by defects in at least two loci and is a genetically heterogeneous disorder.