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

J Cardiovasc Transl Res. 2016 Feb;9(1):87-9. doi: 10.1007/s12265-015-9670-0. Epub 2016 Jan 5.


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.

Keywords: Arrhythmogenic right ventricular cardiomyopathy; SCN10A; Sudden cardiac death.

Publication types

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

MeSH terms

  • Adult
  • Arrhythmogenic Right Ventricular Dysplasia / diagnosis
  • Arrhythmogenic Right Ventricular Dysplasia / genetics*
  • Case-Control Studies
  • DNA Mutational Analysis
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Markers
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • NAV1.8 Voltage-Gated Sodium Channel / genetics*
  • Phenotype
  • Risk Factors
  • Young Adult


  • Genetic Markers
  • NAV1.8 Voltage-Gated Sodium Channel
  • SCN10A protein, human