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Updated: Jan 18, 2026

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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Genetic and Gender Influences on Hypertrophic Cardiomyopathy: A Comprehensive Population-based Study of Clinical

Shibba Takkar Chhabra1, Gautam Singal1, Anshuman Gupta1

  • 1Department of Cardiology, DMC Hospital, Ludhiana, Punjab, India.

International Journal of Applied & Basic Medical Research
|September 12, 2025
PubMed

Insights

Genetic analysis of hypertrophic cardiomyopathy (HCM) in India reveals distinct patterns and highlights the need for broader gene screening. Only half of hereditary cases link to known genes, emphasizing further research for better diagnosis and management.

Area of Science:

  • Cardiology
  • Genetics
  • Population Health

Background:

  • Hypertrophic cardiomyopathy (HCM) is linked to left ventricular hypertrophy and significant morbidity.
  • Its hereditary nature necessitates identifying population-specific genetic markers and gender disparities for improved management.
  • Understanding these factors can enhance screening strategies for hypertrophic cardiomyopathy.

Purpose of the Study:

  • To investigate the genetic patterns of hypertrophic cardiomyopathy (HCM) within the Indian population.
  • To explore potential gender-associated differences in hypertrophic cardiomyopathy.
  • To identify genetic markers and prevalence of HCM types in India.

Main Methods:

  • Prospective analysis of medical records from 103 hypertrophic cardiomyopathy (HCM) patients.
  • Genetic testing performed on 48 patients with a family history of HCM or sudden cardiac death.
  • Echocardiography, clinical outcomes, and genetic testing results were documented and compared between genders.

Main Results:

  • Genetic analysis revealed that only 50% of hereditary hypertrophic cardiomyopathy (HCM) cases were linked to known genes.
  • Apical or midapical HCM (48%) and reverse curvature HCM (31.1%) were prevalent types.
  • MYBPC3 and MYH7 were common genes, with variants found in emerging genes in Indian patients.

Conclusions:

  • The prevalence of different hypertrophic cardiomyopathy (HCM) types varies in the Indian population.
  • The study underscores the need for expanded genetic screening for hypertrophic cardiomyopathy in India due to limited known gene associations.
  • Further research into genetic variations is crucial for effective hypertrophic cardiomyopathy management.
Abstract

Keywords:
Gender differencesgenetic testinghypertrophic cardiomyopathy

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