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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.
Insights
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.
Abstract:
Cardiomyopathies (CMPs) are a heterogeneous group of heart muscle diseases with several different phenotypes defined as myocardial disorders in which the heart muscle is structurally and functionally abnormal in the absence of coronary artery disease, hypertension, valvular heart disease and congenital heart disease sufficient to explain the observed myocardial abnormality. CMPs can be classified into one of the following, i.e. hypertrophic CMP (HCM), dilated CMP (DCM), arrhythmogenic right ventricular CMP (ARVC), restrictive CMP (RCM), and unclassified CMPs. Although an increasing number of CMPs are now recognized to have a genetic basis, single mutations are associated with phenotypic variability and may cause not only a specific CMP, but also several different CMPs. Recently, it has become evident that, along with environmental interactions, age and sex may affect the penetrance of disease genes thus determining the phenotypic expression of CMPs. Noteworthy, an increasing body of data indicates that sex plays an important role in various forms of CMPs. The mode of inheritance may affect the sex-related occurrence of CMPs. Also, sex is a relevant determinant of the clinical manifestation of CMPs, and sex-related characteristics can be found in all forms. Sex-specific aspects of clinical disease expression as well as potential modes of inheritance should be therefore taken into proper consideration in order to improve the diagnostic work-up and treatment strategy of CMPs in both sexes.
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