Key result
Postmortem screening detects RyR2 mutations in ~11% of sudden unexplained deaths featuring status thymico-lymphaticus.
Why the study?
Mutations in the cardiac ryanodine receptor type 2 (RyR2) gene are known causes of sudden death, but their role in sudden unexplained death cases requires further investigation.
Does postmortem molecular screening identify RyR2 mutations in cases of sudden unexplained death?
Observational (n=18)
No
Does postmortem molecular screening identify RyR2 mutations in cases of sudden unexplained death?
Postmortem molecular screening of the RyR2 gene can identify causative mutations like R420W in sudden unexplained death, potentially associated with status thymico-lymphaticus.
RyR2 R420W mutation seen in SUD autopsies; leaves open its causal role and supports larger genetic studies before clinical adoption.
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 R420W). Both cases showed mild fatty infiltration of the right ventricular apex. Interestingly, 1 case showed an enlarged thymus with accompanying hypertrophy of the tonsils and mesenteric lymph nodes. In addition, a narrowing of the aorta was observed in this case. These phenotypic characteristics are consistent with status thymico-lymphaticus, which combines sudden death with an enlargement of lymphoid organs and hypoplasia of the cardiovascular system. The second case also displayed some characteristics of status thymico-lymphaticus. CONCLUSION: The R420W mutation has already been reported in families with juvenile sudden death and may be causative of sudden death in our cases. Postmortem molecular screening of the RyR2 gene could be useful for investigation for cause of death in SUD. The possible association of the RyR2 mutation with status thymico-lymphaticus is discussed.
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Nishio et al. (2006) conducted an observational in Sudden unexplained death (SUD) (n=18). RyR2 gene mutation (R420W) was evaluated on Detection of RyR2 gene mutations. Postmortem molecular screening identified a heterozygous missense mutation (R420W) in the RyR2 gene in 2 of 18 cases of sudden unexplained death, with both cases showing features of status thymico-lymphaticus.
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