RT Journal Article
T1 Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice.
A1 Mates, Jesus
A1 Mademont-Soler, Irene
A1 Del Olmo, Bernat
A1 Ferrer-Costa, Carles
A1 Coll, Monica
A1 Pérez-Serra, Alexandra
A1 Picó, Ferran
A1 Allegue, Catarina
A1 Fernandez-Falgueras, Anna
A1 Álvarez, Patricia
A1 Yotti, Raquel
A1 Espinosa, Maria Angeles
A1 Sarquella-Brugada, Georgia
A1 Cesar, Sergi
A1 Carro, Ester
A1 Brugada, Josep
A1 Arbelo, Elena
A1 Garcia-Pavia, Pablo
A1 Borregan, Mar
A1 Tizzano, Eduardo
A1 López-Granados, Amador
A1 Mazuelos, Francisco
A1 Díaz de Bustamante, Aranzazu
A1 Darnaude, Maria Teresa
A1 González-Hevia, José Ignacio
A1 Díaz-Flores, Felícitas
A1 Trujillo, Francisco
A1 Iglesias, Anna
A1 Fernandez-Aviles, Francisco
A1 Campuzano, Oscar
A1 Brugada, Ramon
AB Several studies have identified copy number variants (CNVs) as responsible for cardiac diseases associated with sudden cardiac death (SCD), but very few exhaustive analyses in large cohorts of patients have been performed, and they have been generally focused on a specific SCD-related disease. The aim of the present study was to screen for CNVs the most prevalent genes associated with SCD in a large cohort of patients who suffered sudden unexplained death or had an inherited cardiac disease (cardiomyopathy or channelopathy). A total of 1765 European patients were analyzed with a homemade algorithm for the assessment of CNVs using high-throughput sequencing data. Thirty-six CNVs were identified (2%), and most of them appeared to have a pathogenic role. The frequency of CNVs among cases of sudden unexplained death, patients with a cardiomyopathy or a channelopathy was 1.4% (8/587), 2.3% (20/874), and 2.6% (8/304), respectively. Detection rates were particularly high for arrhythmogenic cardiomyopathy (5.1%), long QT syndrome (4.7%), and dilated cardiomyopathy (4.4%). As such large genomic rearrangements underlie a non-neglectable portion of cases, we consider that their analysis should be performed as part of the routine genetic testing of sudden unexpected death cases and patients with SCD-related diseases.
YR 2018
FD 2018-03-06
LK http://hdl.handle.net/10668/12213
UL http://hdl.handle.net/10668/12213
LA en
DS RISalud
RD Apr 18, 2025