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Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease

S D Solomon1, J A Jarcho, W McKenna

  • 1Cardiovascular Division, Brigham & Women's Hospital, Boston, Massachusetts 02115.

The Journal of Clinical Investigation
|September 1, 1990
PubMed

Insights

Familial hypertrophic cardiomyopathy (FHC) is genetically diverse. Genetic defects causing FHC were found in at least two different gene locations, indicating genetic heterogeneity in this heart muscle disorder.

Area of Science:

  • Cardiovascular Genetics
  • Human Genetics
  • Molecular Cardiology

Background:

  • Familial hypertrophic cardiomyopathy (FHC) is an inherited heart muscle disease.
  • FHC is typically an autosomal dominant disorder.
  • Previous research mapped one FHC locus to chromosome 14q11-12 (FHC-1).

Purpose of the Study:

  • To investigate the genetic heterogeneity of FHC.
  • To determine if FHC in additional families maps to the known FHC-1 locus.
  • To identify potential new loci responsible for FHC.

Main Methods:

  • Clinical evaluation of family members using physical examination, ECG, and echocardiography.
  • Genetic linkage analysis using DNA probes near the FHC-1 locus.
  • Characterization of three unrelated families with autosomal dominant FHC.

Main Results:

  • One family's FHC genetic defect mapped to the established FHC-1 locus.
  • FHC in two other families was not linked to the FHC-1 locus.
  • Evidence suggests FHC is caused by genetic defects at multiple loci.

Conclusions:

  • Familial hypertrophic cardiomyopathy is a genetically heterogeneous disorder.
  • At least two distinct genetic loci are implicated in FHC.
  • Further research is needed to identify additional FHC-associated genes.

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