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Cardiomyopathies: Temporal Review and Genetic Determination

Gaetano Thiene1, Stefania Rizzo1, Cristina Basso1

  • 1Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, 35121 Padova, Italy.

Biomedicines
|October 29, 2025
PubMed

Insights

Cardiomyopathies are heart muscle diseases often genetic, causing mechanical or electrical dysfunction. This review covers their history, classification, genetics, and potential gene therapy for these conditions.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Cardiomyopathies are myocardial diseases characterized by dysfunction, potentially with or without structural changes.
  • These conditions are frequently genetically determined and can manifest as mechanical (systolic/diastolic) or electrical (arrhythmias, conduction disorders) dysfunction.
  • Historically, cardiomyopathies included dilated, hypertrophic, restrictive-obliterative, and arrhythmogenic types.

Purpose of the Study:

  • To review the historical evolution of cardiomyopathies.
  • To discuss current issues in the classification and nomenclature of cardiomyopathies.
  • To explore the genetic basis and potential gene therapy for cardiomyopathies.

Main Methods:

  • This study is a comprehensive literature review.
  • It synthesizes information on the history, classification, genetics, and therapeutic approaches to cardiomyopathies.

Main Results:

  • The definition of cardiomyopathy has expanded to include electrical disorders without structural substrates, such as channelopathies and ryanodine receptor disorders.
  • Genetic factors play a significant role in the etiology of many cardiomyopathies.
  • Gene therapy presents a potential future treatment avenue.

Conclusions:

  • Cardiomyopathy classification and understanding have evolved significantly, now encompassing electrical disorders.
  • Genetic determinants are crucial in cardiomyopathy development.
  • Advances in gene therapy offer promising prospects for treating these heart muscle diseases.

Keywords:
cardiomyopathiesgeneticsheart transplantpathologysudden death

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