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

Authors :
Georgia Sarquella-Brugada
Irene Mademont-Soler
Jesus Mates
Bernat del Olmo
Anna Fernandez-Falgueras
Paloma Jordà
Elena Arbelo
Mireia Alcalde
Alexandra Pérez-Serra
Coloma Tiron
Marta Puigmulé
Ferran Picó
Ana García-Álvarez
Oscar Campuzano
Carles Ferrer
Rocío Toro
Ramon Brugada
Josep Brugada
Victoria Fiol
Monica Coll
Simone Grassi
Sergi Cesar
Laura Lopez
Antonio Oliva
Anna Iglesias
Source :
FORENSIC SCI INT-GEN, r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu, Fundació Sant Joan de Déu, r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu, instname
Publication Year :
2019

Abstract

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.

Details

ISSN :
18780326 and 18724973
Volume :
47
Database :
OpenAIRE
Journal :
Forensic science international. Genetics
Accession number :
edsair.doi.dedup.....7605ecc1b96773fa20cad9d53e64d42f