Sex-Related Differences in Genetic Cardiomyopathies
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Updated: Sep 25, 2025

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Published on: August 8, 2022
Alessia Argirò1,2,3, Carolyn Ho4, Sharlene M Day5
1Cardiomyopathy Unit Careggi University Hospital Florence Italy.
Insights
Sex significantly influences cardiomyopathies, affecting prevalence and clinical presentation. Understanding these sex-based differences in heart muscle disease is crucial for targeted research and improved patient care.
Area of Science:
- Cardiology
- Genetics
- Sex-based Medicine
Background:
- Cardiomyopathies are heart muscle diseases with common structural and functional abnormalities, often with a genetic basis.
- Current classification relies on presenting phenotypes: hypertrophic, dilated, arrhythmogenic, and restrictive cardiomyopathy.
- Sex is known to modulate the prevalence, presentation, and progression of cardiomyopathies.
Purpose of the Study:
- To review the current understanding of how sex influences cardiomyopathies.
- To highlight sex-specific differences in myocardial disease, including ion channel expression and cardiac remodeling.
- To identify knowledge gaps and future research directions in sex-based cardiomyopathy research.
Main Methods:
- Literature review of existing studies on sex and cardiomyopathies.
- Analysis of research on sex-related differences in cardiovascular physiology and disease.
- Synthesis of findings on genetic, molecular, and environmental factors influencing sex disparities.
Main Results:
- Cardiomyopathy prevalence, morphofunctional characteristics, and clinical outcomes vary between males and females.
- Differences in ion channel function and left ventricular remodeling are observed between sexes.
- Societal and environmental factors may contribute to observed clinical discrepancies, potentially disadvantaging women.
Conclusions:
- Sex is a critical factor influencing the development and presentation of cardiomyopathies.
- Further research is needed to elucidate the underlying mechanisms of sex differences in heart muscle disease.
- Addressing knowledge gaps is essential for developing sex-specific diagnostic and therapeutic strategies for cardiomyopathies.
Abstract:
Cardiomyopathies are a heterogeneous collection of diseases that have in common primary functional and structural abnormalities of the heart muscle, often genetically determined. The most effective categorization of cardiomyopathies is based on the presenting phenotype, with hypertrophic, dilated, arrhythmogenic, and restrictive cardiomyopathy as the prototypes. Sex modulates the prevalence, morpho-functional manifestations and clinical course of cardiomyopathies. Aspects as diverse as ion channel expression and left ventricular remodeling differ in male and female patients with myocardial disease, although the reasons for this are poorly understood. Moreover, clinical differences may also result from complex societal/environmental discrepancies between sexes that may disadvantage women. This review provides a state-of-the-art appraisal of the influence of sex on cardiomyopathies, highlighting the many gaps in knowledge and open research questions.
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