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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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New perspectives on the prevalence of hypertrophic cardiomyopathy

Christopher Semsarian1, Jodie Ingles1, Martin S Maron2

  • 1Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia; Sydney Medical School, University of Sydney, Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia.

Journal of the American College of Cardiology
|March 28, 2015
PubMed

Insights

Hypertrophic cardiomyopathy (HCM) is more common than previously thought. Advances in genetic testing and imaging suggest a higher prevalence, potentially improving diagnosis and treatment for this genetic heart muscle disease.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Epidemiology

Background:

  • Hypertrophic cardiomyopathy (HCM) is a significant genetic heart muscle disease.
  • Previous estimates suggested a prevalence of approximately 1 in 500 individuals.
  • The exact prevalence of HCM in the general population remains incompletely understood.

Purpose of the Study:

  • To re-evaluate the prevalence of HCM in the general population.
  • To account for recent advancements in cardiovascular medicine impacting disease recognition.
  • To provide updated prevalence data for clinical practice.

Main Methods:

  • Review of recent advances in cardiovascular medicine.
  • Consideration of widespread genetic testing and population genetic studies.
  • Inclusion of contemporary diagnostic imaging techniques.
  • Assessment of increased clinical suspicion and recognition of HCM phenotypes.

Main Results:

  • Recent advancements suggest HCM may be more prevalent than previously estimated.
  • Widespread genetic testing and improved imaging contribute to higher detection rates.
  • Recognition of both overt disease and gene-positive, phenotype-negative individuals impacts prevalence figures.

Conclusions:

  • Hypertrophic cardiomyopathy is likely more common than previously reported.
  • Updated prevalence data can enhance recognition within the cardiovascular community.
  • Timely diagnosis and treatment implementation are facilitated by improved disease awareness.

Keywords:
geneticshypertrophic cardiomyopathymagnetic resonance imagingsudden death

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