Results

RDF/XMLNTriplesTurtleShow queryShare ▶
SubjectPredicateObject
http://purl.uniprot.org/citations/21070882http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/21070882http://www.w3.org/2000/01/rdf-schema#comment"

Background

Retrospective investigation of sudden unexplained death in the young (SUDY) reveals that a high proportion is due to inherited heart disease.

Objective

The purpose of this study was to ascertain the diagnostic value of postmortem long QT (LQT) genetic analysis in a prospective study of SUDY victims 1-40 years old.

Methods

Denaturing high-performance liquid chromatography or direct sequencing of LQT genes 1, 2, 3, 5, and 6 was performed, in a National New Zealand protocol, in SUDY victims aged 1-40 years.

Results

Over 26 months (2006-2008), DNA was stored at autopsy from 52 victims of sudden unexpected death. Further testing revealed a diagnosis in 19 cases (poisoning 4, dilated cardiomyopathy 3, myocarditis 3, other 9). The remaining 33 cases underwent genetic testing (age at death 18 months-40 years, median 25 years). Eighteen (55%) died during sleep or at rest, and 7 (21%) died during light activity. Rare missense variants in LQT genes were found in 5 (15%) cases (confidence interval 3%-27%): T96R in KCNQ1 (11-year-old male), P968L in KCNH2 (32-year-old female), P2006A in SCN5A (34-year-old female), and R67H and R98W in KCNE1 (17- and 38-year-old females, respectively). Evidence of pathogenicity was provided by in vitro evidence (T96R), family phenotype-genotype co-segregation (R98W, P2006A), and/or previous reports (R67H, P968L, P2006A, R98W). Family cardiac investigation was possible in 23 (70%) families and revealed probable cause of death for 5 (15%) other victims (confidence interval 3%-27%).

Conclusion

Most community SUDY occurs at rest or during light activity. A diagnostic rate of 15% supports the transition of LQT genetic autopsy, combined with family investigation, into routine medical practice."xsd:string
http://purl.uniprot.org/citations/21070882http://purl.org/dc/terms/identifier"doi:10.1016/j.hrthm.2010.11.016"xsd:string
http://purl.uniprot.org/citations/21070882http://purl.uniprot.org/core/author"Aitken A."xsd:string
http://purl.uniprot.org/citations/21070882http://purl.uniprot.org/core/author"Evans C.A."xsd:string
http://purl.uniprot.org/citations/21070882http://purl.uniprot.org/core/author"Maxwell F."xsd:string
http://purl.uniprot.org/citations/21070882http://purl.uniprot.org/core/author"Yang T."xsd:string
http://purl.uniprot.org/citations/21070882http://purl.uniprot.org/core/author"Crawford J."xsd:string
http://purl.uniprot.org/citations/21070882http://purl.uniprot.org/core/author"White K."xsd:string
http://purl.uniprot.org/citations/21070882http://purl.uniprot.org/core/author"Love D.R."xsd:string
http://purl.uniprot.org/citations/21070882http://purl.uniprot.org/core/author"Roden D.M."xsd:string
http://purl.uniprot.org/citations/21070882http://purl.uniprot.org/core/author"Smith W."xsd:string
http://purl.uniprot.org/citations/21070882http://purl.uniprot.org/core/author"Leren T.P."xsd:string
http://purl.uniprot.org/citations/21070882http://purl.uniprot.org/core/author"Neas K.R."xsd:string
http://purl.uniprot.org/citations/21070882http://purl.uniprot.org/core/author"Skinner J.R."xsd:string
http://purl.uniprot.org/citations/21070882http://purl.uniprot.org/core/author"Hayes I."xsd:string
http://purl.uniprot.org/citations/21070882http://purl.uniprot.org/core/author"Stables S."xsd:string
http://purl.uniprot.org/citations/21070882http://purl.uniprot.org/core/author"Denmark L."xsd:string
http://purl.uniprot.org/citations/21070882http://purl.uniprot.org/core/author"Heaven D."xsd:string
http://purl.uniprot.org/citations/21070882http://purl.uniprot.org/core/author"Koelmeyer T."xsd:string
http://purl.uniprot.org/citations/21070882http://purl.uniprot.org/core/author"Shelling A."xsd:string
http://purl.uniprot.org/citations/21070882http://purl.uniprot.org/core/author"Vuletic J."xsd:string
http://purl.uniprot.org/citations/21070882http://purl.uniprot.org/core/date"2011"xsd:gYear
http://purl.uniprot.org/citations/21070882http://purl.uniprot.org/core/name"Heart Rhythm"xsd:string
http://purl.uniprot.org/citations/21070882http://purl.uniprot.org/core/pages"412-419"xsd:string
▶