Absence of a Primary Role for SCN10A Mutations in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Anneline S.J.M. te Riele, Cynthia A. James, Brittney Murray, Crystal Tichnell, Nuria Amat-Alarcon, Kathleen Burks, Harikrishna Tandri, Hugh Calkins, Michael Polydefkis, Daniel P. Judge

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


Prior reports have identified associations between SCN10A and cardiac disorders, such as atrial fibrillation and Brugada syndrome. We evaluated SCN10A in 151 probands with ARVD/C. In this cohort, 10 putatively pathogenic SCN10A variants were identified, including a novel frameshift insertion. Despite a known role for the encoded protein in peripheral nerve function, the proband with the frameshift variant had no discernible neurological abnormalities. Arrhythmic phenotypes were not different between those with a rare variant in SCN10A and those without. The prevalence of rare variants in SCN10A was similar among ARVD/C probands with and without a desmosome mutation and similar among healthy Caucasian controls. These results indicate the absence of a primary role for SCN10A mutations in ARVD/C.

Original languageEnglish (US)
Pages (from-to)87-89
Number of pages3
JournalJournal of cardiovascular translational research
Issue number1
StatePublished - Feb 1 2016


  • Arrhythmogenic right ventricular cardiomyopathy
  • SCN10A
  • Sudden cardiac death

ASJC Scopus subject areas

  • Molecular Medicine
  • Genetics
  • Pharmaceutical Science
  • Cardiology and Cardiovascular Medicine
  • Genetics(clinical)


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