Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy

Nat Genet. 2004 Nov;36(11):1162-4. doi: 10.1038/ng1461. Epub 2004 Oct 17.


Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with fibrofatty replacement of cardiac myocytes, ventricular tachyarrhythmias and sudden cardiac death. In 32 of 120 unrelated individuals with ARVC, we identified heterozygous mutations in PKP2, which encodes plakophilin-2, an essential armadillo-repeat protein of the cardiac desmosome. In two kindreds with ARVC, disease was incompletely penetrant in most carriers of PKP2 mutations.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Arrhythmogenic Right Ventricular Dysplasia / genetics*
  • Desmosomes
  • Female
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Plakophilins
  • Proteins / genetics*


  • PKP2 protein, human
  • Plakophilins
  • Proteins

Associated data

  • GENBANK/X97675