Literature DB >> 20705407

New technologies in the genetic approach to sudden cardiac death in the young.

M Brion1, I Quintela, B Sobrino, M Torres, C Allegue, A Carracedo.   

Abstract

Sudden cardiac death (SCD) is a major health problem and constitutes one of the most important unsolved challenges in the practice of forensic pathology due to the failure to determine the cause of death. Particularly, an important number of previously healthy young people who have died suddenly and unexpectedly are consequence of genetic heart disorders, either structural cardiomyopathies or arrhythmogenic abnormalities. The technological approach to analyze this type of genetically heterogeneous disorders is far from easy but nowadays the variety of chemistries and methodologies improves choice. This review offers to the reader a state of the art of the available technologies for the study of genetics of sudden cardiac death, including mutation screening approaches, genome wide association studies, and the recently developed next-generation sequencing.
Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

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Year:  2010        PMID: 20705407     DOI: 10.1016/j.forsciint.2010.07.015

Source DB:  PubMed          Journal:  Forensic Sci Int        ISSN: 0379-0738            Impact factor:   2.395


  9 in total

1.  Detection of genetic variation in KCNQ1 gene by high-resolution melting analysis in a prospective-based series of postmortem negative sudden death: comparison of results obtained in fresh frozen and formalin-fixed paraffin-embedded tissues.

Authors:  Audrey Farrugia; Christine Keyser; Bertrand Ludes
Journal:  Int J Legal Med       Date:  2012-03-09       Impact factor: 2.686

2.  Prevalence of HCM and long QT syndrome mutations in young sudden cardiac death-related cases.

Authors:  Catarina Allegue; Rocio Gil; Alejandro Blanco-Verea; Montserrat Santori; Marisol Rodríguez-Calvo; Luis Concheiro; Angel Carracedo; María Brion
Journal:  Int J Legal Med       Date:  2011-04-16       Impact factor: 2.686

Review 3.  Negative autopsy and sudden cardiac death.

Authors:  Oscar Campuzano; Catarina Allegue; Sara Partemi; Anna Iglesias; Antonio Oliva; Ramon Brugada
Journal:  Int J Legal Med       Date:  2014-02-16       Impact factor: 2.686

4.  Postmortem genetic testing of the ryanodine receptor 2 (RYR2) gene in a cohort of sudden unexplained death cases.

Authors:  M K Larsen; K E Berge; T P Leren; P H Nissen; J Hansen; I B Kristensen; J Banner; H K Jensen
Journal:  Int J Legal Med       Date:  2012-01-06       Impact factor: 2.686

Review 5.  Genetics of sudden cardiac death syndromes.

Authors:  Nagesh Chopra; Björn C Knollmann
Journal:  Curr Opin Cardiol       Date:  2011-05       Impact factor: 2.161

Review 6.  A perspective on SIDS pathogenesis. the hypotheses: plausibility and evidence.

Authors:  Paul N Goldwater
Journal:  BMC Med       Date:  2011-05-27       Impact factor: 8.775

Review 7.  Application of Next Generation Sequencing for personalized medicine for sudden cardiac death.

Authors:  Elena Morini; Federica Sangiuolo; Daniela Caporossi; Giuseppe Novelli; Francesca Amati
Journal:  Front Genet       Date:  2015-03-02       Impact factor: 4.599

Review 8.  Identifying potential functional impact of mutations and polymorphisms: linking heart failure, increased risk of arrhythmias and sudden cardiac death.

Authors:  Benoît Jagu; Flavien Charpentier; Gilles Toumaniantz
Journal:  Front Physiol       Date:  2013-09-20       Impact factor: 4.566

9.  Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

Authors:  Olallo Sanchez; Oscar Campuzano; Anna Fernández-Falgueras; Georgia Sarquella-Brugada; Sergi Cesar; Irene Mademont; Jesus Mates; Alexandra Pérez-Serra; Monica Coll; Ferran Pico; Anna Iglesias; Coloma Tirón; Catarina Allegue; Esther Carro; María Ángeles Gallego; Carles Ferrer-Costa; Anna Hospital; Narcís Bardalet; Juan Carlos Borondo; Albert Vingut; Elena Arbelo; Josep Brugada; Josep Castellà; Jordi Medallo; Ramon Brugada
Journal:  PLoS One       Date:  2016-12-08       Impact factor: 3.240

  9 in total

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