Postmortem molecular analysis for fatal arrhythmogenic disease in sudden unexplained death

Abstract Congenital long QT syndrome (LQTS) and catecholaminergic polymorphic ventricular tachycardia (CPVT) are known to be involved in some sudden unexplained death (SUD) cases. We examined possible mutations of the genes responsible for LQTS and CPVT in 17 SUD cases. Three cases showed RYR2 mutat...

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Published inLegal medicine (Tokyo, Japan) Vol. 11; pp. S119 - S120
Main Authors Nishio, Hajime, Suzuki, Koichi
Format Journal Article
LanguageEnglish
Published Ireland Elsevier Ireland Ltd 01.04.2009
Subjects
Adolescent
Adult
Arrhythmia
Child
Death, Sudden - etiology
ECG
Female
Forensic Genetics
Humans
Internal Medicine
KCNQ1 Potassium Channel - genetics
Long QT Syndrome - genetics
Male
Mutation
Ryanodine Receptor Calcium Release Channel - genetics
Sudden death
Tachycardia, Ventricular - genetics
Young Adult
Arrhythmia
ECG
Sudden death
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Summary:Abstract Congenital long QT syndrome (LQTS) and catecholaminergic polymorphic ventricular tachycardia (CPVT) are known to be involved in some sudden unexplained death (SUD) cases. We examined possible mutations of the genes responsible for LQTS and CPVT in 17 SUD cases. Three cases showed RYR2 mutations, which are responsible for CPVT. We also found a novel KCNQ1 mutation. The KCNQ1 mutation is most frequently found in patients with congenital LQTS. Since morphological abnormalities have not been reported in patients with LQTS and CPVT, postmortem molecular screening for LQTS and CPVT-causative genes may be necessary for diagnosis of a SUD case. It may also useful for preventing living family members with the disease-causing mutation from cardiac events.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
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ISSN:1344-6223
1873-4162
DOI:10.1016/j.legalmed.2009.01.031