Search: onr:"swepub:oai:lup.lub.lu.se:70fae96a-fd35-4648-b1be-903bec56509c" >
Genetic screening i...
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Stattin, Eva-LenaUmeå universitet,Medicinsk och klinisk genetik
(author)
Genetic screening in sudden cardiac death in the young can save future lives
- Article/chapterEnglish2016
Publisher, publication year, extent ...
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2015-07-31
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Springer Science and Business Media LLC,2016
Numbers
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LIBRIS-ID:oai:lup.lub.lu.se:70fae96a-fd35-4648-b1be-903bec56509c
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https://lup.lub.lu.se/record/8731622URI
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https://doi.org/10.1007/s00414-015-1237-8DOI
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https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-128555URI
Supplementary language notes
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Language:English
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Summary in:English
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Subject category:art swepub-publicationtype
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Subject category:ref swepub-contenttype
Notes
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Autopsy of sudden cardiac death (SCD) in the young shows a structurally and histologically normal heart in about one third of cases. Sudden death in these cases is believed to be attributed in a high percentage to inherited arrhythmogenic diseases. The purpose of this study was to investigate the value of performing post-mortem genetic analysis for autopsy-negative sudden unexplained death (SUD) in 1 to 35 year olds. From January 2009 to December 2011, samples from 15 cases suffering SUD were referred to the Department of Clinical Genetics, UmeAyen University Hospital, Sweden, for molecular genetic evaluation. PCR and bidirectional Sanger sequencing of genes important for long QT syndrome (LQTS), short QT syndrome (SQTS), Brugada syndrome type 1 (BrS1), and catecholaminergic polymorphic ventricular tachycardia (CPVT) (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, and RYR2) was performed. Multiplex ligation-dependent probe amplification (MLPA) was used to detect large deletions or duplications in the LQTS genes. Six pathogenic sequence variants (four LQTS and two CPVT) were discovered in 15 SUD cases (40 %). Ten first-degree family members were found to be mutation carriers (seven LQTS and three CPVT). Cardiac ion channel genetic testing in autopsy-negative sudden death victims has a high diagnostic yield, with identification of the disease in 40 % of families. First-degree family members should be offered predictive testing, clinical evaluation, and treatment with the ultimate goal to prevent sudden death.
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Added entries (persons, corporate bodies, meetings, titles ...)
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Westin, Ida MariaUmeå universitet,Medicinsk och klinisk genetik(Swepub:umu)iiabom02
(author)
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Cederquist, KristinaUmeå universitet,Patologi(Swepub:umu)krce0002
(author)
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Jonasson, JenniUmeå universitet,Patologi(Swepub:umu)jejo0057
(author)
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Jonsson, Björn-AndersUmeå universitet,Patologi(Swepub:umu)bjjo0020
(author)
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Mörner, StellanUmeå universitet,Kardiologi(Swepub:umu)stmo0005
(author)
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Norberg, AnnaUmeå universitet,Medicinsk och klinisk genetik,Patologi,Heart Centre(Swepub:umu)anno0028
(author)
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Krantz, PeterLund University,Lunds universitet,Rättsmedicin,Forskargrupper vid Lunds universitet,Forensic Medicine,Lund University Research Groups(Swepub:lu)fore-pkr
(author)
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Wisten, Aase
(author)
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Umeå universitetMedicinsk och klinisk genetik
(creator_code:org_t)
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In:International Journal of Legal Medicine: Springer Science and Business Media LLC130:1, s. 59-660937-98271437-1596
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