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

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Genotype-Phenotype Relationship in Hypertrophic Cardiomyopathy

Dovilė Žebrauskienė1, Eglė Sadauskienė2, Roma Puronaitė2,3

  • 1Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, LT-03101 Vilnius, Lithuania.

Genes
|September 27, 2025
PubMed

Insights

Genetic variants influence hypertrophic cardiomyopathy (HCM) presentation, causing earlier diagnosis and more severe hypertrophy. However, genotype does not predict clinical outcomes after diagnosis in HCM patients.

Area of Science:

  • Cardiology
  • Genetics
  • Internal Medicine

Background:

  • Hypertrophic cardiomyopathy (HCM) is an inherited cardiac condition with significant genetic and phenotypic variability.
  • The relationship between genotype and clinical course in HCM remains incompletely understood.

Purpose of the Study:

  • To investigate the phenotypic and molecular characteristics of patients diagnosed with HCM.
  • To assess the impact of pathogenic/likely pathogenic (P/LP) variants on HCM presentation and clinical course.

Main Methods:

  • Analysis of clinical and genetic data from 214 adult HCM patients treated between 2005 and 2024.
  • Comparative analysis between patients with and without identified P/LP variants.

Main Results:

  • Pathogenic/likely pathogenic (P/LP) variants were identified in 43% of patients.
  • Individuals with P/LP variants were diagnosed earlier and exhibited greater maximal cardiac hypertrophy compared to those without identified genetic causes.
  • Patients with P/LP variants experienced earlier onset of atrial fibrillation, ventricular tachycardia, and heart failure.

Conclusions:

  • Genotype significantly influences the phenotype of hypertrophic cardiomyopathy, leading to earlier onset and increased hypertrophy.
  • Once diagnosed, the specific genotype may not be a predictor of clinical outcomes in HCM.
Abstract

Keywords:
genotypehypertrophic cardiomyopathyphenotype

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