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Updated: Feb 2, 2026

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Published on: October 25, 2016
Sex-related differences in cardiomyopathies
Francesco Pelliccia1, Giuseppe Limongelli2, Camillo Autore3
1Department Attilio Reale, Sapienza University, Rome, Italy.
Cardiomyopathies (CMPs) are diverse heart muscle diseases. Sex significantly influences CMP genetic penetrance, clinical presentation, and inheritance patterns, impacting diagnosis and treatment strategies for all patients.
Area of Science:
- Cardiology
- Genetics
- Medical Science
Background:
- Cardiomyopathies (CMPs) encompass diverse heart muscle diseases with various phenotypes.
- CMPs are characterized by structural and functional myocardial abnormalities, excluding other cardiac conditions.
- Genetic factors are increasingly implicated in CMPs, exhibiting phenotypic variability.
Purpose of the Study:
- To investigate the role of sex in the phenotypic expression and clinical manifestation of cardiomyopathies.
- To highlight the importance of sex-specific considerations in the diagnosis and treatment of CMPs.
Main Methods:
- Review of existing literature on cardiomyopathies, genetics, and sex-related factors.
- Analysis of how age, environmental interactions, and sex influence disease gene penetrance.
- Examination of sex-specific characteristics across different CMP classifications.
Main Results:
- Sex is a significant determinant of CMP occurrence, clinical presentation, and disease expression.
- The mode of inheritance can influence sex-related CMP incidence.
- Sex-specific characteristics are observed in all forms of cardiomyopathies.
Conclusions:
- Sex plays a crucial role in the pathogenesis and clinical variability of cardiomyopathies.
- Understanding sex-specific aspects is essential for improving diagnostic work-up and treatment strategies.
- Personalized approaches considering sex are vital for effective CMP management.
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