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Arrhythmogenic Cardiomyopathy

Domenico Corrado1, Cristina Basso2, Daniel P Judge2

  • 1From the Department of Cardiac, Thoracic, and Vascular Sciences, University of Padova Medical School, Italy (D.C., C.B.); and Department of Medicine/Cardiology, Center for Inherited Heart Disease, Johns Hopkins University School of Medicine, Baltimore, MD (D.P.J.). domenico.corrado@unipd.it.

Circulation Research
|September 16, 2017
PubMed

Insights

Arrhythmogenic cardiomyopathy is an inherited heart muscle disorder causing sudden cardiac death, especially in young individuals. Diagnosis uses a scoring system, and preventing sudden cardiac death via implantable cardioverter defibrillators is key, despite associated risks.

Area of Science:

  • Cardiology
  • Genetics
  • Pathology

Background:

  • Arrhythmogenic cardiomyopathy (ACM) is an inherited heart muscle disease.
  • It leads to sudden cardiac death, particularly in young patients and athletes.
  • Pathological hallmarks include myocyte loss and fibrofatty replacement of the myocardium.

Purpose of the Study:

  • To review the diagnosis and management of arrhythmogenic cardiomyopathy.
  • To highlight the challenges in preventing sudden cardiac death in affected individuals.
  • To discuss the role and limitations of implantable cardioverter defibrillators in ACM management.

Main Methods:

  • Diagnostic criteria involve a scoring system integrating clinical, genetic, and imaging data.
  • Genetic analysis focuses on desmosomal gene mutations.
  • Treatment strategies primarily aim at sudden cardiac death prevention.

Main Results:

  • ACM is characterized by cell-to-cell junction defects, often due to genetic desmosome abnormalities.
  • Diagnosis is multifactorial, relying on a comprehensive scoring system.
  • Implantable cardioverter defibrillators are the only proven therapy for sudden cardiac death prevention but carry risks.

Conclusions:

  • Arrhythmogenic cardiomyopathy requires a multidisciplinary diagnostic approach.
  • Effective management focuses on risk stratification and timely intervention for sudden cardiac death prevention.
  • Careful patient selection for implantable cardioverter defibrillator implantation is crucial to balance benefits and risks.

Keywords:
arrhythmias, cardiacarrhythmogenic right ventricular cardiomyopathycardiomyopathiesdefibrillators, implantabledesmosomes

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