Related Experiment Video

Updated: Jul 19, 2025

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

3.2K

Advanced searching for hypertrophic cardiomyopathy heritability in real practice tomorrow

Olga S Chumakova1, Natalia M Baulina1

  • 1Laboratory of Functional Genomics of Cardiovascular Diseases, National Medical Research Centre of Cardiology Named After E.I. Chazov, Moscow, Russia.

Frontiers in Cardiovascular Medicine
|August 16, 2023
PubMed

Insights

Genetic testing for hypertrophic cardiomyopathy (HCM) is crucial for personalized treatment. Expanded genetic panels and risk scores, including non-genetic markers, improve patient risk stratification for this inherited cardiac disease.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Hypertrophic cardiomyopathy (HCM) is a prevalent inherited cardiac condition with significant morbidity and mortality.
  • The genetic basis of HCM is complex, varying between individuals and the general population.
  • Accurate molecular diagnosis is essential for advancing personalized treatment strategies in the era of gene therapy.

Purpose of the Study:

  • To underscore the importance of genetic testing in routine HCM practice.
  • To explore the potential of expanded genetic panels, including novel genes and deep intronic variants.
  • To discuss the integration of polygenic risk scores and non-genetic markers for enhanced HCM risk stratification.

Main Methods:

  • Review of current literature on genetic architecture of HCM.
  • Discussion of expanded genetic panel design incorporating core and candidate genes, deep intronic regions, and structural variations.
  • Exploration of polygenic risk scores and non-genetic markers (e.g., microRNAs) for risk stratification.

Main Results:

  • Genetic testing is fundamental for personalized HCM management.
  • Expanded genetic panels offer a more comprehensive diagnostic approach.
  • Combining genetic data with non-genetic factors like microRNAs can improve risk assessment.

Conclusions:

  • Detailed molecular diagnostics, including expanded genetic panels and risk scores, are vital for personalized hypertrophic cardiomyopathy treatment.
  • Integrating genetic and non-genetic markers enhances the stratification of HCM risk in diverse populations.
  • The principles discussed for HCM are applicable to other cardiomyopathies.

Keywords:
HCM-associated variantsNGSdiagnosisgeneticshypertrophic cardiomyopathymiRNAmissing heritabilitypolygenic risk score

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