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Open Access 01-01-2016 | Original Article

Genetic screening in sudden cardiac death in the young can save future lives

Authors: Eva-Lena Stattin, Ida Maria Westin, Kristina Cederquist, Jenni Jonasson, Björn-Anders Jonsson, Stellan Mörner, Anna Norberg, Peter Krantz, Aase Wisten

Published in: International Journal of Legal Medicine | Issue 1/2016

Abstract

Background

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.

Methods and results

From January 2009 to December 2011, samples from 15 cases suffering SUD were referred to the Department of Clinical Genetics, Umeå 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).

Conclusion

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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Title: Genetic screening in sudden cardiac death in the young can save future lives
Authors: Eva-Lena Stattin
Ida Maria Westin
Kristina Cederquist
Jenni Jonasson
Björn-Anders Jonsson
Stellan Mörner
Anna Norberg
Peter Krantz
Aase Wisten
Publication date: 01-01-2016
Publisher: Springer Berlin Heidelberg
Published in: International Journal of Legal Medicine / Issue 1/2016
Print ISSN: 0937-9827
Electronic ISSN: 1437-1596
DOI: https://doi.org/10.1007/s00414-015-1237-8

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Genetic screening in sudden cardiac death in the young can save future lives

Abstract

Background

Methods and results

Conclusion

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Methods and results

Conclusion

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