Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis?

Arrhythmias, Cardiac / genetics Cardiomyopathies / genetics Channelopathies / genetics DNA Copy Number Variations Databases, Genetic Death, Sudden, Cardiac / etiology Forensic Genetics Humans
arrhythmias copy number variants human genetics sudden cardiac death

Journal

Forensic science international. Genetics
ISSN: 1878-0326
Titre abrégé: Forensic Sci Int Genet
Pays: Netherlands
ID NLM: 101317016

Informations de publication

Date de publication:
07 2020
Historique:
received: 12 10 2019
revised: 02 03 2020
accepted: 18 03 2020
pubmed: 6 4 2020
medline: 6 7 2021
entrez: 6 4 2020
Statut: ppublish

Résumé

Over the last ten years, analysis of copy number variants has increasingly been applied to the study of arrhythmogenic pathologies associated with sudden death, mainly due to significant advances in the field of massive genetic sequencing. Nevertheless, few published reports have focused on the prevalence of copy number variants associated with sudden cardiac death. As a result, the frequency of these genetic alterations in arrhythmogenic diseases as well as their genetic interpretation and clinical translation has not been established. This review summarizes the current available data concerning copy number variants in sudden cardiac death-related diseases.

Identifiants

DOI: 10.1016/j.fsigen.2020.102281 PMID: 32248082
pubmed: 32248082
pii: S1872-4973(20)30054-5
doi: 10.1016/j.fsigen.2020.102281
pii:
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

102281

Informations de copyright

Copyright © 2020 Elsevier B.V. All rights reserved.

Auteurs

Jesus Mates (J)

Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain.

Irene Mademont-Soler (I)

Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain; Genetics Department, Clinical Laboratory, Hospital Josep Trueta, University of Girona, Spain.

Anna Fernandez-Falgueras (A)

Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain.

Georgia Sarquella-Brugada (G)

Medical Science Department, School of Medicine, University of Girona, Spain; Arrhythmias Unit, Hospital Sant Joan de Déu, University of Barcelona, Spain.

Sergi Cesar (S)

Arrhythmias Unit, Hospital Sant Joan de Déu, University of Barcelona, Spain.

Elena Arbelo (E)

Centro de Investigación Biomédica en Red, Enfermedades Cardiovasculares (CIBERCV), Spain; Arrhythmias Unit, Hospital Clinic, University of Barcelona-IDIBAPS, Spain.

Ana García-Álvarez (A)

Centro de Investigación Biomédica en Red, Enfermedades Cardiovasculares (CIBERCV), Spain; Arrhythmias Unit, Hospital Clinic, University of Barcelona-IDIBAPS, Spain.

Paloma Jordà (P)

Centro de Investigación Biomédica en Red, Enfermedades Cardiovasculares (CIBERCV), Spain; Arrhythmias Unit, Hospital Clinic, University of Barcelona-IDIBAPS, Spain.

Rocío Toro (R)

Medicine Department, School of Medicine, Cadiz, Spain.

Mónica Coll (M)

Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain.

Victoria Fiol (V)

Arrhythmias Unit, Hospital Sant Joan de Déu, University of Barcelona, Spain.

Anna Iglesias (A)

Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain; Centro de Investigación Biomédica en Red, Enfermedades Cardiovasculares (CIBERCV), Spain.

Alexandra Perez-Serra (A)

Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain; Centro de Investigación Biomédica en Red, Enfermedades Cardiovasculares (CIBERCV), Spain.

Bernat Del Olmo (BD)

Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain.

Mireia Alcalde (M)

Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain; Centro de Investigación Biomédica en Red, Enfermedades Cardiovasculares (CIBERCV), Spain.

Marta Puigmulé (M)

Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain.

Ferran Pico (F)

Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain.

Laura Lopez (L)

Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain.

Carles Ferrer (C)

Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain.

Coloma Tiron (C)

Cardiology Service, Hospital Josep Trueta, University of Girona, Spain.

Simone Grassi (S)

Institute of Public Health, Section Legal Medicine, Catholic University, Rome, Italy.

Antonio Oliva (A)

Institute of Public Health, Section Legal Medicine, Catholic University, Rome, Italy.

Josep Brugada (J)

Arrhythmias Unit, Hospital Sant Joan de Déu, University of Barcelona, Spain; Centro de Investigación Biomédica en Red, Enfermedades Cardiovasculares (CIBERCV), Spain; Arrhythmias Unit, Hospital Clinic, University of Barcelona-IDIBAPS, Spain.

Ramon Brugada (R)

Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain; Medical Science Department, School of Medicine, University of Girona, Spain; Centro de Investigación Biomédica en Red, Enfermedades Cardiovasculares (CIBERCV), Spain; Cardiology Service, Hospital Josep Trueta, University of Girona, Spain. Electronic address: ramon@brugada.org.

Oscar Campuzano (O)

Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain; Medical Science Department, School of Medicine, University of Girona, Spain; Centro de Investigación Biomédica en Red, Enfermedades Cardiovasculares (CIBERCV), Spain; Biochemistry and Molecular Genetics Department, Hospital Clinic, University of Barcelona-IDIBAPS, Spain. Electronic address: oscar@brugada.org.

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Classifications MeSH

questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Troubles du rythme cardiaque › Sudden Cardiac Death and Copy Number Variants:...
questionsmedicales.fr › Maladies cardiovasculaires › Cardiopathies › Cardiomyopathies › Sudden Cardiac Death and Copy Number Variants:...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Canalopathies › Sudden Cardiac Death and Copy Number Variants:...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Variation structurale du génome › Variations de nombre de copies de segment d'ADN › Sudden Cardiac Death and Copy Number Variants:...
questionsmedicales.fr › Sciences de l'information › Mémorisation et recherche des informations › Bases de données comme sujet › Bases de données factuelles › Bases de données génétiques › Sudden Cardiac Death and Copy Number Variants:...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Mort › Mort subite › Mort subite cardiaque › Sudden Cardiac Death and Copy Number Variants:...
questionsmedicales.fr › Sciences sociales › Criminologie › Sciences légales › Médecine légale › Génétique légale › Sudden Cardiac Death and Copy Number Variants:...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Sudden Cardiac Death and Copy Number Variants:...