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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Clinical Insights Into Heritable Cardiomyopathies

Hugo R Martinez1, Gary S Beasley1, Noah Miller1

  • 1The Heart Institute, Le Bonheur Children's Hospital, The University of Tennessee Health Science Center, Memphis, TN, United States.

Frontiers in Genetics
|May 17, 2021
PubMed

Insights

Heritable cardiomyopathies (CMs) are myocardial diseases with diverse genetic causes and symptoms, including heart failure and sudden cardiac death. Understanding genetic links aids risk stratification and family screening for better cardiovascular health.

Area of Science:

  • Cardiovascular Medicine
  • Human Genetics
  • Molecular Cardiology

Background:

  • Cardiomyopathies (CMs) are a diverse group of myocardial diseases affecting heart structure and function.
  • These conditions range from asymptomatic to severe heart failure and sudden cardiac death.
  • CMs are a significant cause of cardiovascular morbidity, heart transplantation, and mortality.

Purpose of the Study:

  • To review the current understanding of heritable cardiomyopathies (CMs).
  • To summarize pathogenic gene variants linked to common CM subtypes.
  • To highlight the need for updated educational pathways in cardiovascular genetics.

Main Methods:

  • Literature review of heritable cardiomyopathies.
  • Analysis of genetic and phenotypic associations.
  • Synthesis of current knowledge on CMs and their genetic underpinnings.

Main Results:

  • Identified common pathogenic gene variants for dilated, hypertrophic, arrhythmogenic, non-compaction, and restrictive cardiomyopathies.
  • Detailed the spectrum of CM phenotypes, from silent to symptomatic heart failure and sudden cardiac death.
  • Emphasized the growing gap between cardiovascular genetics knowledge and clinical awareness.

Conclusions:

  • Understanding genetic/phenotypic associations in heritable CMs improves risk stratification and management.
  • Genetic insights facilitate the identification of at-risk family members.
  • Enhanced education in cardiovascular genetics is crucial for addressing the knowledge gap.

Keywords:
cardiac phenotypesgenetic expressiongenetic testingheritable cardiomyopathiesmyocardial disease

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