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

2020; Elsevier BV; Volume: 47; Linguagem: Inglês

10.1016/j.fsigen.2020.102281

1878-0326

Jesús Matés, Irene Mademont‐Soler, Anna Fernàndez-Falgueras, Geòrgia Sarquella-Brugada, Sergi César, Elena Arbelo, Ana García‐Álvarez, Paloma Jordà, Rocío Toro, Mónica Coll, Victoria Fiol, Anna Iglesias, Alexandra Pérez‐Serra, Bernat del Olmo, Mireia Alcalde, Marta Puigmulé, Ferran Picó, Laura López, Carles Ferrer, Coloma Tirón, Simone Grassi, Antonio Oliva, Josép Brugada, Ramón Brugada, Óscar Campuzano,

Cardiomyopathy and Myosin Studies

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.