Citation

Matsusue A, Kashiwagi M, Hara K, Waters B, Sugimura T, Kubo SI. Leg. Med. (Elsevier) 2012; 14(6): 317-319.

Affiliation

Department of Forensic Medicine, Faculty of Medicine, Fukuoka University, Fukuoka, Japan.

Copyright

(Copyright © 2012, Japanese Society of Legal Medicine, Publisher Elsevier Publishing)

DOI

10.1016/j.legalmed.2012.04.009

PMID

22682427

Abstract

SCN5A (sodium channel, voltage-gated, type V, alpha subunit) gene encodes the cardiac sodium channel, a member of the voltage-gated sodium channel family. SCN5A mutations have been associated with a variety of inherited arrhythmias, including long QT syndrome and Brugada syndrome. We report an autopsy case of sudden unexpected nocturnal death syndrome. A man in his thirties died at night while sleeping. At autopsy, no traumatic injury, disease or drug intake was observed as a possible cause of death. We examined mutations in the SCN5A gene and identified a heterozygous mutation causing an R1193Q amino acid substitution. It was reported that the R1193Q polymorphism in the SCN5A gene destabilizes channel inactivation and may be a risk factor for Brugada and long QT syndrome. It may be considered that the cause of death in this case was sudden cardiac death.

Language: en