Postmortem Molecular Screening for Cardiac Ryanodine Receptor Type 2 Mutations in Sudden Unexplained Death R420W Mutated Case With Characteristics of Status Thymico-Lymphaticus

Abstract excerpt

BACKGROUND: Mutations of the cardiac ryanodine receptor type 2 (RyR2) gene are known to cause effort-induced polymorphic ventricular arrhythmia, syncope and sudden death. METHODS AND RESULTS: The possible mutations in the RyR2 gene were examined in 18 autopsy cases of sudden unexplained death (SUD). Two cases were found to have the heterozygous missense mutation in exon 14 (nucleotide change C1258T, coding effect...

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