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Arrhythmogenic right ventricular cardiomyopathy: an update on pathophysiology, genetics, diagnosis, and risk

M Paul1, T Wichter, L Fabritz

  • 1Division of Cardiology, Department of Cardiovascular Medicine, University Hospital Münster, Albert-Schweitzer-Campus 1 (Gebäude A1), 48149, Münster, Germany. Matthias.Paul@ukmuenster.de

Herzschrittmachertherapie & Elektrophysiologie
|September 27, 2012
PubMed

Insights

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart condition causing dangerous arrhythmias and sudden death. Genetic factors are key, but diagnosis and prognosis remain challenging.

Area of Science:

  • Cardiology
  • Genetics
  • Inherited Diseases

Background:

  • Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy linked to sudden cardiac death in young individuals.
  • Mutations in desmosomal genes are recognized as primary causes of ARVC.
  • Genetic heterogeneity and variable clinical presentation complicate prognostic assessments.

Purpose of the Study:

  • To provide a comprehensive review of the current literature on ARVC.
  • To discuss the pathogenesis, diagnosis, treatment, and prognosis of ARVC.
  • To highlight potential future developments in ARVC research and management.

Main Methods:

  • Literature review of scientific articles on ARVC.
  • Analysis of current diagnostic criteria and risk stratification methods.
  • Synthesis of information on genetic factors and clinical manifestations.

Main Results:

  • Desmosomal gene mutations are established causes of ARVC.
  • Despite advancements, underdiagnosis and misdiagnosis of ARVC persist.
  • Established diagnostic criteria (WHO 1995, modified 2010) aid in ARVC identification.

Conclusions:

  • ARVC diagnosis and prognosis remain challenging due to genetic complexity and variable expression.
  • Accurate diagnosis and risk stratification are crucial for managing ARVC patients.
  • Ongoing research is vital for improving understanding and treatment of ARVC.

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