Arrhythmogenic Cardiomyopathy

Circ Res. 2017 Sep 15;121(7):784-802. doi: 10.1161/CIRCRESAHA.117.309345.


Arrhythmogenic cardiomyopathy is an inherited heart muscle disorder, predisposing to sudden cardiac death, particularly in young patients and athletes. Pathological features include loss of myocytes and fibrofatty replacement of right ventricular myocardium; biventricular involvement is often observed. It is a cell-to-cell junction cardiomyopathy, typically caused by genetically determined abnormalities of cardiac desmosomes, which leads to detachment of myocytes and alteration of intracellular signal transduction. The diagnosis of arrhythmogenic cardiomyopathy does not rely on a single gold standard test but is achieved using a scoring system, which encompasses familial and genetic factors, ECG abnormalities, arrhythmias, and structural/functional ventricular alterations. The main goal of treatment is the prevention of sudden cardiac death. Implantable cardioverter defibrillator is the only proven lifesaving therapy; however, it is associated with significant morbidity because of device-related complications and inappropriate implantable cardioverter defibrillator interventions. Selection of patients who are the best candidates for implantable cardioverter defibrillator implantation is one of the most challenging issues in the clinical management.

Keywords: arrhythmias, cardiac; arrhythmogenic right ventricular cardiomyopathy; cardiomyopathies; defibrillators, implantable; desmosomes.

Publication types

  • Review

MeSH terms

  • Animals
  • Arrhythmias, Cardiac / diagnosis
  • Arrhythmias, Cardiac / genetics
  • Arrhythmias, Cardiac / mortality
  • Arrhythmias, Cardiac / therapy*
  • Arrhythmogenic Right Ventricular Dysplasia / diagnosis
  • Arrhythmogenic Right Ventricular Dysplasia / genetics
  • Arrhythmogenic Right Ventricular Dysplasia / mortality
  • Arrhythmogenic Right Ventricular Dysplasia / therapy*
  • Biopsy
  • Cardiac Imaging Techniques
  • Cardiomyopathies / diagnosis
  • Cardiomyopathies / genetics
  • Cardiomyopathies / mortality
  • Cardiomyopathies / therapy*
  • DNA Mutational Analysis
  • Death, Sudden, Cardiac / etiology
  • Death, Sudden, Cardiac / prevention & control*
  • Defibrillators, Implantable*
  • Electric Countershock / adverse effects
  • Electric Countershock / instrumentation*
  • Electrocardiography
  • Genetic Predisposition to Disease
  • Humans
  • Molecular Diagnostic Techniques
  • Mutation
  • Myocardium / pathology
  • Patient Selection
  • Phenotype
  • Predictive Value of Tests
  • Risk Factors
  • Treatment Outcome