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Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular

A Dénise den Haan1, Boon Yew Tan, Michelle N Zikusoka

  • 1Department of Medicine/Cardiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

Circulation. Cardiovascular Genetics
|December 25, 2009
PubMed

Insights

Genetic analysis of 100 North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) found desmosome gene mutations in 52%. These mutations are linked to earlier onset and increased ventricular tachycardia risk in ARVD/C patients.

Area of Science:

  • Cardiovascular Genetics
  • Inherited Cardiac Diseases
  • Molecular Cardiology

Background:

  • Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited cardiac disorder.
  • Mutations in cardiac desmosome genes are a common cause of ARVD/C.
  • The prevalence of these mutations in North America was previously undescribed.

Purpose of the Study:

  • To conduct comprehensive genetic analysis of desmosome components in North American patients with ARVD/C.
  • To determine the prevalence and clinical significance of desmosome mutations in this population.

Main Methods:

  • DNA sequencing of key desmosome genes (PKP2, DSG2, DSP, DSC2, JUP) was performed.
  • Analysis included 100 individuals with clinically confirmed or suspected ARVD/C.
  • Phenotypic data, including age of onset and ventricular tachycardia, were correlated with genetic findings.

Main Results:

  • Desmosome mutations were identified in 52% of patients with ARVD/C, predominantly in the PKP2 gene.
  • Individuals with desmosome mutations presented with earlier onset ARVD/C (33 vs. 41 years) and higher rates of ventricular tachycardia (73% vs. 44%).
  • Mutations were found in 28% of suspected ARVD cases, with no significant phenotypic differences observed in this subgroup.

Conclusions:

  • Over half of North American ARVD/C patients harbor identifiable mutations in cardiac desmosome genes.
  • Desmosome gene mutations are associated with a more severe ARVD/C phenotype, including earlier onset and increased risk of ventricular tachycardia.
Abstract

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