An autopsy case of sudden unexpected nocturnal death syndrome with R1193Q polymorphism in the SCN5A gene

• Published in: Legal medicine (Tokyo, Japan) Vol. 14; no. 6; pp. 317 - 319
• Main Authors: Matsusue, Aya, Kashiwagi, Masayuki, Hara, Kenji, Waters, Brian, Sugimura, Tomoko, Kubo, Shin-ichi
• Format: Journal Article
• Language: English
• Published: Ireland Elsevier Ireland Ltd 01.11.2012
• Subjects: Adult; Autopsy; Brugada Syndrome - genetics; Forensic autopsy; Forensic Genetics - methods; Humans; Internal Medicine; Japan; Male; NAV1.5 Voltage-Gated Sodium Channel - genetics; Polymorphism; Polymorphism, Genetic; SCN5A; Sudden cardiac death; Sudden unexpected nocturnal death syndrome; Japan; Forensic autopsy; SCN5A; Sudden cardiac death; Sudden unexpected nocturnal death syndrome; Polymorphism
• ISSN: 1344-6223; 1873-4162
• DOI: 10.1016/j.legalmed.2012.04.009

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.