Sex-Related Differences in Genetic Cardiomyopathies

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.

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