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The molecular genetics of arrhythmogenic right ventricular dysplasia-cardiomyopathy

Ferhaan Ahmad1

  • 1Department of Genetics, Harvard Medical School, Howard Hughes Medical Institute, Boston, Mass 02115, USA. fahmad@genetics.med.harvard.edu

Clinical and Investigative Medicine. Medecine Clinique Et Experimentale
|August 26, 2003
PubMed

Insights

Arrhythmogenic right ventricular dysplasia (ARVD) is an inherited heart condition causing sudden cardiac death in young people. Genetic studies reveal mutations affecting cell junctions and calcium handling, offering insights into disease mechanisms.

Area of Science:

  • Cardiology
  • Genetics
  • Pathology

Background:

  • Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/ARVC) is an inherited cardiac disorder.
  • It involves adipose and fibrous tissue replacement of the right ventricular myocardium.
  • ARVD/ARVC is a significant cause of sudden cardiac death in the young.

Purpose of the Study:

  • To summarize current understanding of ARVD/ARVC pathogenesis.
  • To highlight the role of genetic discoveries in elucidating disease mechanisms.
  • To identify remaining questions in ARVD/ARVC research.

Main Methods:

  • Review of genetic studies identifying loci and mutations associated with ARVD/ARVC.
  • Analysis of proposed pathogenetic mechanisms based on identified gene mutations.
  • Synthesis of current knowledge on ARVD/ARVC.

Main Results:

  • Nine genetic loci for ARVD/ARVC have been identified, with mutations found in genes at three loci.
  • Mutations in desmoplakin and plakoglobin genes suggest impaired myocyte cell-cell junction integrity.
  • Mutations in the cardiac ryanodine receptor gene implicate calcium handling abnormalities.

Conclusions:

  • Altered cell-cell junction integrity may lead to myocyte degeneration and replacement by fatty/fibrous tissue.
  • Cytoplasmic calcium overload might contribute to ARVD/ARVC arrhythmias and structural changes.
  • Further gene identification is crucial for a comprehensive understanding of ARVD/ARVC pathogenesis.

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