Referenced in: none

Automatically associated channels: Nav1.5

Title: SNP S1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a white family.

Authors: S Chen, M K Chung, D Martin, R Rozich, P J Tchou, Q Wang

Journal, date & volume: J. Med. Genet., 2002 Dec , 39, 913-5

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/12471205

Abstract
Cardiac arrhythmias cause 400 000 sudden deaths annually in the United States alone. Mutations in the cardiac sodium channel gene SCN5A on chromosome 3p21 cause cardiac arrhythmias and sudden death. In this study, we define an SCN5A mutation, S1103Y, in a white family associated with syncope, ventricular fibrillation, and sudden death. A very recent study reported the same mutation in 13.2% of African Americans, but not in the white population. Our study shows that mutation S1103Y does exist in the white population, and it is associated with a considerable risk of syncope, ventricular arrhythmia, ventricular fibrillation, and sudden death in this population.