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

Jesus Mates; Irene Mademont-Soler; Anna Fernandez-Falgueras; Georgia Sarquella-Brugada; Sergi Cesar; Elena Arbelo; Ana García-Álvarez; Paloma Jordà; Rocío Toro; Mónica Coll; Victoria Fiol; Anna Iglesias; Alexandra Perez-Serra; Bernat Del Olmo; Mireia Alcalde; Marta Puigmulé; Ferran Pico; Laura Lopez; Carles Ferrer; Coloma Tiron; Simone Grassi; Antonio Oliva; Josep Brugada; Ramon Brugada; Oscar Campuzano

doi:10.1016/j.fsigen.2020.102281

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

Jesus Mates, Irene Mademont-Soler, Anna Fernandez-Falgueras, Georgia Sarquella-Brugada, Sergi Cesar, Elena Arbelo, Ana García-Álvarez, Paloma Jordà, Rocío Toro, Mónica Coll, Victoria Fiol, Anna Iglesias, Alexandra Perez-Serra, Bernat Del Olmo, Mireia Alcalde, Marta Puigmulé, Ferran Pico, Laura Lopez, Carles Ferrer, Coloma TironSimone Grassi, Antonio Oliva, Josep Brugada, Ramon Brugada, Oscar Campuzano

Research output: Contribution to journal › Article › peer-review

5 Citations (Scopus)

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.

Original language	English
Pages (from-to)	N/A-N/A/
Journal	Forensic Science International: Genetics
DOIs	https://doi.org/10.1016/j.fsigen.2020.102281
Publication status	Published - 2020

Keywords

arrhythmias
copy number variants
human genetics
sudden cardiac death

Access to Document

10.1016/j.fsigen.2020.102281

Cite this

Mates, J., Mademont-Soler, I., Fernandez-Falgueras, A., Sarquella-Brugada, G., Cesar, S., Arbelo, E., García-Álvarez, A., Jordà, P., Toro, R., Coll, M., Fiol, V., Iglesias, A., Perez-Serra, A., Olmo, B. D., Alcalde, M., Puigmulé, M., Pico, F., Lopez, L., Ferrer, C., ... Campuzano, O. (2020). Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis? Forensic Science International: Genetics, N/A-N/A/. https://doi.org/10.1016/j.fsigen.2020.102281

@article{a9eed4be6e104584865ea9051b2b3e3c,

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

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.",

keywords = "arrhythmias, copy number variants, human genetics, sudden cardiac death, arrhythmias, copy number variants, human genetics, sudden cardiac death",

author = "Jesus Mates and Irene Mademont-Soler and Anna Fernandez-Falgueras and Georgia Sarquella-Brugada and Sergi Cesar and Elena Arbelo and Ana Garc{\'i}a-{\'A}lvarez and Paloma Jord{\`a} and Roc{\'i}o Toro and M{\'o}nica Coll and Victoria Fiol and Anna Iglesias and Alexandra Perez-Serra and Olmo, {Bernat Del} and Mireia Alcalde and Marta Puigmul{\'e} and Ferran Pico and Laura Lopez and Carles Ferrer and Coloma Tiron and Simone Grassi and Antonio Oliva and Josep Brugada and Ramon Brugada and Oscar Campuzano",

year = "2020",

doi = "10.1016/j.fsigen.2020.102281",

language = "English",

pages = "N/A--N/A/",

journal = "Forensic Science International: Genetics",

issn = "1872-4973",