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

نویسندگان

  • Aya Matsusue
  • Masayuki Kashiwagi
  • Kenji Hara
  • Brian Waters
  • Tomoko Sugimura
  • Shin-ichi Kubo
چکیده

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.

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منابع مشابه

Near-miss SIDS due to Brugada syndrome.

A 19 day old infant was successfully resuscitated from ventricular fibrillation. The 12 lead ECG was normal, with a normal QT interval, and remains so over three years follow up. DNA analysis revealed a missense mutation (R1193Q) in the SCN5A gene, previously linked with familial sudden unexpected nocturnal death syndrome, also known as Brugada syndrome.

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عنوان ژورنال:
  • Legal medicine

دوره 14 6  شماره 

صفحات  -

تاریخ انتشار 2012