Related Experiment Video

Updated: Oct 21, 2025

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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Sex Differences in Hypertrophic Cardiomyopathy: Interaction With Genetics and Environment

Alexandra Butters1,2,3, Neal K Lakdawala4, Jodie Ingles5,6,7,8

  • 1Centre for Population, Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, Australia.

Current Heart Failure Reports
|September 3, 2021
PubMed

Insights

Hypertrophic cardiomyopathy (HCM) affects women differently than men. Women with HCM experience more severe symptoms and higher mortality risk, necessitating sex-specific research for better treatment.

Area of Science:

  • Cardiology
  • Genetics
  • Environmental Health

Background:

  • Hypertrophic cardiomyopathy (HCM) clinical guidelines are based on male-predominant data.
  • Sex-specific differences in HCM presentation and outcomes are increasingly recognized.
  • Women represent one-third of HCM patients but are underrepresented in research.

Purpose of the Study:

  • To explore sex-specific interactions of genetics and environment in hypertrophic cardiomyopathy (HCM).
  • To highlight disparities in HCM clinical course and outcomes between sexes.
  • To emphasize the need for sex-disaggregated data in HCM research.

Main Methods:

  • Review of observational studies and clinical data from hypertrophic cardiomyopathy (HCM) centers.
  • Analysis of sex-specific presentation, disease stage, and symptom burden.
  • Examination of genetic associations and risk factors for heart failure and mortality.

Main Results:

  • Women with HCM are diagnosed later, present with more advanced disease, and have a higher symptom burden.
  • Women face greater risks for heart failure and mortality compared to men with HCM.
  • While women are more often gene-positive, sudden cardiac death risk and access to care are similar between sexes.

Conclusions:

  • Significant sex differences exist in hypertrophic cardiomyopathy (HCM) progression and outcomes.
  • Current research and guidelines may not adequately address the needs of female HCM patients.
  • Sex-disaggregated data analysis is crucial for understanding HCM mechanisms and improving patient care.
Abstract

Keywords:
EnvironmentGeneticsHypertrophic cardiomyopathySex

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