Sex-dependent pathophysiological mechanisms in hypertrophic cardiomyopathy: implications for rhythm disorders

Louise L A M Nijenkamp1, Ahmet Güçlü2, Yolande Appelman3

  • 1Department of Physiology, Institute for Cardiovascular Research.

Heart Rhythm
|December 3, 2014
PubMed

Insights

Men exhibit greater cardiac remodeling and disease prevalence in hypertrophic cardiomyopathy (HCM). While sex doesn't impact sudden cardiac death (SCD) risk in patients, animal models suggest certain mutations may predispose males to SCD.

Area of Science:

  • Cardiovascular Physiology
  • Sex Differences in Medicine
  • Genetics of Cardiac Disease

Background:

  • Sex-based disparities in cardiac physiology emerge at puberty and persist throughout aging.
  • Cardiovascular disease prevalence and progression are generally more severe in men than women.
  • Hypertrophic cardiomyopathy (HCM), an inherited cardiac condition, disproportionately affects men.

Purpose of the Study:

  • To investigate sex-based differences in hypertrophic cardiomyopathy (HCM) presentation and progression.
  • To explore the influence of sex on cardiac remodeling and sudden cardiac death (SCD) risk in HCM patients.
  • To analyze the penetrance of HCM-causing mutations in relation to sex.

Main Methods:

  • Comparative analysis of cardiac remodeling in male and female HCM patients.
  • Review of epidemiological data on HCM prevalence and sex distribution.
  • Examination of animal models to assess sex-specific responses to HCM-related mutations.

Main Results:

  • Men demonstrate significantly higher cardiac remodeling compared to women with HCM.
  • Male patients are overrepresented in HCM cohorts, suggesting increased mutation penetrance in males.
  • While patient data show no sex difference in SCD or arrhythmia risk, animal studies indicate potential sex-specific risks for SCD.

Conclusions:

  • Sex is a significant factor influencing cardiac remodeling and disease manifestation in hypertrophic cardiomyopathy.
  • Further research is needed to elucidate the mechanisms behind sex differences in HCM progression and associated risks.
  • Understanding these sex-based disparities is crucial for personalized risk stratification and therapeutic strategies in HCM.

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