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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Clinically Actionable Hypertrophic Cardiomyopathy Genes in South Asian Indian Patients

Vinay J Rao1,2, Thiagarajan Sairam1, Andiappan Rathinavel3

  • 1Cardiovascular Development and Disease Mechanisms Institute for Stem Cell Science and Regenerative Medicine (BRIC-inStem) Bengaluru India.

Journal of the American Heart Association
|October 23, 2025
PubMed

Insights

Genetic variants for hypertrophic cardiomyopathy (HCM) in South Asian Indian (SAI) patients differ from global populations. Key genes like MYBPC3, MYH7, and MYH6 show distinct prevalence patterns in SAI HCM.

Area of Science:

  • Cardiovascular Genetics
  • Genomics
  • Precision Medicine

Background:

  • Primary hypertrophic cardiomyopathy (HCM) is a genetic heart condition.
  • Limited data exists on clinically actionable gene variants in South Asian Indian (SAI) populations.
  • Understanding ancestry-specific variants is crucial for accurate diagnosis and treatment.

Purpose of the Study:

  • To investigate the prevalence of clinically actionable gene variants in SAI patients with primary HCM.
  • To compare these findings with global HCM cohorts.
  • To inform genetic interpretation and reduce health disparities.

Main Methods:

  • Whole-exome sequencing of 335 primary SAI patients with HCM.
  • Analysis included all known cardiovascular genes and ClinGen-categorized actionable genes.
  • Allele frequencies of pathogenic/likely pathogenic variants and variants of uncertain significance were determined.

Main Results:

  • 193 pathogenic/likely pathogenic variants and variants of uncertain significance were found in 26 actionable genes in 35.52% of SAI HCM cases.
  • SAI HCM showed significantly fewer variants in definitive category genes compared to global cohorts (15.77% vs. 43.23%).
  • MYH6 exhibited a significantly higher prevalence of pathogenic/likely pathogenic variants in SAI HCM (0.897% vs. 0%).

Conclusions:

  • Clinically actionable gene variants in SAI HCM patients differ significantly from other global HCM cohorts.
  • Specific genes like MYBPC3, MYH7, and MYH6 demonstrate distinct patterns in the SAI population.
  • These findings highlight the need for ancestry-specific genetic databases and interpretation guidelines.
Abstract

Keywords:
South Asian Indian (SAI) cohortclinically actionable geneshypertrophic cardiomyopathywhole‐exome sequencing

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