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

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: Genetic screening in sudden cardiac death in the young can save future lives Goto Sponge NotDistinct Permalink

An Entity of Type : schema:ScholarlyArticle, within Data Space : wasabi.inria.fr associated with source document(s)

Attributes	Values
type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
has title	Genetic screening in sudden cardiac death in the young can save future lives
Creator	Norberg, Anna Cederquist, Kristina Jonasson, Jenni Jonsson, Björn-Anders Krantz, Peter Mörner, Stellan Stattin, Eva-Lena Westin, Ida Wisten, Aase
Source	PMC
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.
has issue date	2015-07-31(xsd:dateTime)
bibo:doi	10.1007/s00414-015-1237-8
bibo:pmid	26228265
has license	no-cc
sha1sum (hex)	991d2f1712b2b7a4997ca299b61e22a08b5c6fa4
schema:url	https://doi.org/10.1007/s00414-015-1237-8
resource representing a document's title	Genetic screening in sudden cardiac death in the young can save future lives
has PubMed Central identifier	PMC4712238
has PubMed identifier	26228265
schema:publication	Int J Legal Med
resource representing a document's body	covid:991d2f1712b2b7a4997ca299b61e22a08b5c6fa4#body_text
is schema:about of	named entity '2011' named entity 'sudden cardiac death' named entity 'sudden cardiac death' named entity 'THESE' named entity 'STUDY' named entity 'TO INVESTIGATE' named entity 'olds' named entity 'post-mortem' named entity 'investigate' named entity 'suffering' named entity 'inherited' named entity 'arrhythmogenic' named entity 'histologically' named entity 'believed' named entity 'sudden cardiac death' named entity 'SCD' named entity 'Genetic screening' named entity 'sudden cardiac death' named entity 'CASES' named entity 'PERFORMING' named entity 'Sudden death' covid:arg/991d2f1712b2b7a4997ca299b61e22a08b5c6fa4 named entity 'autopsy' named entity 'genetic analysis' named entity 'SUD' named entity 'NEGATIVE' named entity 'post-mortem' named entity 'Autopsy' named entity 'future lives' named entity 'Sudden death' named entity 'diseases' named entity 'high' named entity 'attributed' named entity 'The' named entity 'SUD' named entity 'SUD' named entity 'study' named entity 'January' named entity 'VALUE' named entity 'OLDS' named entity 'AUTOPSY' named entity 'METHODS' named entity 'YEAR' named entity 'genetic analysis' named entity 'referred' named entity 'samples' named entity 'future' named entity 'SAMPLES' named entity 'SUDDEN DEATH' named entity 'ARRHYTHMOGENIC' named entity 'HIGH PERCENTAGE' named entity 'HISTOLOGICALLY' named entity 'Methods' named entity 'December' named entity 'performing' named entity '2009' named entity 'sudden' named entity 'Autopsy' named entity 'save' named entity 'histologically' named entity 'normal' named entity 'Genetic screening' named entity 'DECEMBER' named entity 'SUFFERING' named entity 'ScD' named entity 'BACKGROUND' named entity 'YOUNG' named entity 'SUDDEN CARDIAC DEATH' named entity 'GENETIC ANALYSIS' named entity 'lives' named entity 'FUTURE' named entity 'ABOUT' named entity 'SUDDEN UNEXPLAINED DEATH'

Faceted Search & Find service v1.13.91 as of Mar 24 2020

Alternative Linked Data Documents: Sponger | ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3229 as of Jul 10 2020, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (94 GB total memory)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software