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. 1990 Sep;86(3):993–999. doi: 10.1172/JCI114802

Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease.

S D Solomon 1, J A Jarcho 1, W McKenna 1, A Geisterfer-Lowrance 1, R Germain 1, R Salerni 1, J G Seidman 1, C E Seidman 1
PMCID: PMC296820  PMID: 1975599

Abstract

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.

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Selected References

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