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Arrhythmogenic cardiomyopathy: etiology, diagnosis, and treatment

Srijita Sen-Chowdhry1, Robert D Morgan, John C Chambers

  • 1Imperial College, London, UK.

Annual Review of Medicine
|January 12, 2010
PubMed

Insights

Arrhythmogenic cardiomyopathy (AC) affects 1 in 1000 people and is a major cause of sudden cardiac death in young adults. Early diagnosis and risk stratification are crucial due to its varied presentation and genetic links.

Area of Science:

  • Cardiology
  • Genetics
  • Pathology

Background:

  • Arrhythmogenic right ventricular cardiomyopathy (ARVC), now often termed arrhythmogenic cardiomyopathy (AC), affects at least 1 in 1000 individuals.
  • It is a primary cause of sudden cardiac death in individuals under 35 and contributes significantly to deaths from undiagnosed heart conditions in those under 65.
  • The disease spectrum includes classic right ventricular, left-dominant, and biventricular forms, bridging cardiomyopathies and inherited arrhythmia syndromes.

Purpose of the Study:

  • To highlight the diagnostic challenges of arrhythmogenic cardiomyopathy.
  • To emphasize the need for comprehensive cardiovascular investigation due to phenotypic heterogeneity.
  • To underscore the critical need for a validated risk-stratification algorithm for the entire disease spectrum.

Main Methods:

  • Review of current understanding of arrhythmogenic cardiomyopathy.
  • Analysis of clinical presentation, including early concealed and progressive phases.
  • Examination of genetic underpinnings, particularly desmosomal gene variants.

Main Results:

  • The concealed phase presents with ventricular tachyarrhythmia despite preserved ventricular function and morphology.
  • Progressive disease involves myocyte loss, inflammation, and fibroadiposis.
  • Genetic variants in desmosomal genes are found in up to 40% of cases.

Conclusions:

  • Clinical diagnosis is complicated by phenotypic heterogeneity and nonspecific features, necessitating multipronged cardiovascular evaluation.
  • Development of a prospectively validated risk-stratification algorithm for the full spectrum of arrhythmogenic cardiomyopathy is a key clinical challenge.

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