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Cardiomyopathies: is it time for a molecular classification?

Gaetano Thiene1, Domenico Corrado, Cristina Basso

  • 1Institute of Pathological Anatomy, University of Padua Medical School, Via A. Gabelli, 61, 35121 Padua, Italy. cardpath@unipd.it

European Heart Journal
|October 12, 2004
PubMed

Insights

Primary myocardial diseases, or cardiomyopathies, have evolving definitions and classifications. Recent genetic discoveries necessitate a re-evaluation of how these heart muscle diseases are categorized.

Area of Science:

  • Cardiology
  • Genetics
  • Pathology

Background:

  • Primary myocardial diseases present complex aetiopathogenesis and historical classification challenges.
  • The 1995 World Health Organization (WHO) classification significantly advanced terminology and recognized new entities like arrhythmogenic right ventricular cardiomyopathy.
  • Inflammatory heart disease is now definitively classified as a cardiomyopathy.

Purpose of the Study:

  • To review the evolving definitions and classifications of primary myocardial diseases.
  • To discuss the implications of new definitions encompassing cardiac dysfunction, rhythm disturbances, and arrhythmogenicity.
  • To explore the need for a genomics-based classification system for cardiomyopathies.

Main Methods:

  • Literature review of historical and current classifications of cardiomyopathies.
  • Analysis of the impact of the 1995 WHO classification.
  • Discussion of emerging concepts in cardiomyopathy definition and genetic basis.

Main Results:

  • The 1995 WHO classification unified terminology and recognized novel cardiomyopathies.
  • Current definitions expand beyond contractility and diastolic dysfunction to include rhythm and conduction abnormalities.
  • Molecular genetics reveals a genetic background for many previously idiopathic cardiomyopathies.

Conclusions:

  • Cardiomyopathy definitions have broadened to encompass a wider spectrum of cardiac dysfunction.
  • The discovery of genetic underpinnings necessitates a debate on a genomics-driven classification.
  • Future classification systems may integrate genetic information for improved understanding and management of heart muscle diseases.

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