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Updated: Feb 22, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

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A One Health Approach to Hypertrophic Cardiomyopathy

Yu Ueda1, Joshua A Stern1,2

  • 1Department of Medicine and Epidemiology, School of Veterinary Medicine, University of California-Davis, Davis, CA.

The Yale Journal of Biology and Medicine
|September 29, 2017
PubMed

Insights

Hypertrophic cardiomyopathy (HCM) is a common inherited heart disease. Studying animal models like cats and non-human primates offers valuable insights into human HCM genetics and potential therapies.

Area of Science:

  • Cardiology
  • Genetics
  • Translational Medicine

Background:

  • Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited cardiac condition, causing significant morbidity and mortality.
  • Despite extensive research into its genetics, molecular mechanisms, and pathophysiology, clinical heterogeneity and limitations in current models hinder understanding.
  • Transgenic mouse models offer insights but have limitations due to species-specific cardiac and hemodynamic differences.

Purpose of the Study:

  • To review the features of human hypertrophic cardiomyopathy.
  • To evaluate existing and emerging animal models for their translational potential in studying HCM.
  • To highlight naturally-occurring large-animal models that may advance HCM research and therapeutic development.

Main Methods:

  • Review of existing literature on human hypertrophic cardiomyopathy.
  • Analysis of genetic, molecular, and histopathological data from various animal models.
  • Comparison of features between human HCM and animal models, including cats and non-human primates.

Main Results:

  • Feline hypertrophic cardiomyopathy exhibits significant molecular, histopathological, and genetic similarities to human HCM, presenting a valuable translational model.
  • Naturally-occurring inherited left ventricular hypertrophy in rhesus macaques is being developed into a non-human primate model for HCM.
  • These large-animal models offer advantages over mouse models for studying genotypic and phenotypic interactions relevant to human disease.

Conclusions:

  • Animal models, particularly cats and non-human primates, provide crucial translational opportunities for understanding human hypertrophic cardiomyopathy.
  • Naturally-occurring large-animal models may overcome limitations of existing models, aiding in the development of novel therapeutic strategies for HCM.
  • Further investigation into these models is essential for advancing knowledge and treatment of this complex inherited cardiac disease.

Keywords:
animal modelscardiomyopathyfamilial hypertrophic cardiomyopathygeneticsleft ventricular hypertrophy

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