Open AccessAbsence of a Primary Role for SCN10A Mutations in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
Author(s) -
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
Publication year - 2016
Publication title -
journal of cardiovascular translational research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.028
H-Index - 51
eISSN - 1937-5395
pISSN - 1937-5387
DOI - 10.1007/s12265-015-9670-0
Subject(s) - proband , arrhythmogenic right ventricular dysplasia , frameshift mutation , brugada syndrome , genetics , medicine , cardiomyopathy , mutation , biology , gene , heart failure
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.