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Familial hypertrophic cardiomyopathy: clinical features, molecular genetics and molecular genetic testing

Matthew R G Taylor1, Elisa Carniel, Luisa Mestroni

  • 1Adult medical Genetics Clinic, Department of Internal Medicine, UCHSC, Aurora, Colorado 80010, USA. Matthew.Taylor@UCHSC.edu

Expert Review of Molecular Diagnostics
|January 9, 2004
PubMed

Insights

Hypertrophic cardiomyopathy, a genetic heart condition affecting 1 in 500 people, causes sudden death in the young. This review details its clinical and molecular genetics, including genotype-phenotype correlations.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Hypertrophic cardiomyopathy (HCM) is a Mendelian disease causing cardiac hypertrophy, affecting 1:500 individuals and is the leading cause of sudden cardiac death in young people.
  • HCM can lead to heart failure and necessitate heart transplantation.
  • While often caused by sarcomeric gene mutations, phenocopies with myocardial hypertrophy can arise from other genetic disorders like Friedreich ataxia, myotonic dystrophy, and mitochondrial or metabolic diseases.

Purpose of the Study:

  • To review the clinical and molecular genetics of hypertrophic cardiomyopathy.
  • To explore the known genotype-phenotype correlations and their clinical significance.
  • To discuss the genetic basis of HCM, including sarcomeric mutations and phenocopies.

Main Methods:

  • Literature review of clinical and molecular genetic studies on hypertrophic cardiomyopathy.
  • Analysis of genetic mutations associated with HCM and its phenocopies.
  • Examination of genotype-phenotype correlations and their clinical implications.

Main Results:

  • HCM is primarily caused by sarcomeric gene mutations but can be mimicked by other genetic conditions.
  • Specific mutations, such as in the AMP-activated protein kinase gene, can lead to unique forms like glycogen storage cardiomyopathy associated with Wolf-Parkinson-White syndrome.
  • Significant gaps remain in understanding genotype-phenotype correlations and their clinical impact.

Conclusions:

  • Hypertrophic cardiomyopathy has diverse genetic origins, necessitating comprehensive genetic evaluation.
  • Further research into genotype-phenotype correlations is crucial for improved clinical management and patient outcomes.
  • Understanding the molecular basis of HCM is essential for developing targeted therapies.

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