RT Journal Article
SR Electronic
T1 SNP S1103Y in the cardiac sodium channel gene <em>SCN5A</em> is associated with cardiac arrhythmias and sudden death in a white family
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 913
OP 915
DO 10.1136/jmg.39.12.913
VO 39
IS 12
A1 S Chen
A1 M K Chung
A1 D Martin
A1 R Rozich
A1 P J Tchou
A1 Q Wang
YR 2002
UL http://jmg.bmj.com/content/39/12/913.abstract
AB 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.