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Published on: November 2, 2020
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.
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.
Abstract:
Differences in cardiac physiology are seen between men and women in terms of health and disease. Sex differences start to develop at puberty and are maintained during aging. The prevalence of almost all cardiovascular diseases is found to be higher in men than in women, and disease progression tends to be more rapid in male than in female patients. In cohorts of patients with hypertrophic cardiomyopathy (HCM), the most common autosomal inherited cardiac disease, men are overrepresented, suggesting increased penetrance of HCM-causing mutations in male patients. Cardiac remodeling in patients with HCM is higher in men than in women, the same is seen in HCM animal models. Patients with HCM are at increased risk of sudden cardiac death (SCD) and developing rhythm disorders. There seems to be no sex effect on the risk of SCD or arrhythmias in patients with HCM; however, animal studies suggest that certain mutations predispose men to SCD.
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