Revista Española de Cardiología (English Edition) Revista Española de Cardiología (English Edition)
Rev Esp Cardiol. 2018;71:1018-26 - Vol. 71 Num.12 DOI: 10.1016/j.rec.2018.03.001

Usefulness of Genetic Study by Next-generation Sequencing in High-risk Arrhythmogenic Cardiomyopathy

Amalio Ruiz Salas a,, José Peña Hernández a, Carmen Medina Palomo a, Alberto Barrera Cordero a, Fernando Cabrera Bueno a, José Manuel García Pinilla a, Ana Guijarro a, Luis Morcillo-Hidalgo a, Manuel Jiménez Navarro a, Juan José Gómez Doblas a, Eduardo de Teresa a, Javier Alzueta a

a Unidad de Gestión Clínica (UGC) del Corazón, CIBER Cardiovascular, Instituto de Biomedicina de Málaga (IBIMA), Hospital Universitario Virgen de la Victoria, Universidad de Málaga, Málaga, Spain

Keywords

Arrhythmogenic right ventricular cardiomyopathy. Implantable cardioverter-defibrillator. Sudden cardiac death. Next-generation sequencing.

Abstract

Introduction and objectives

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by progressive fibrofatty replacement of predominantly right ventricular myocardium. This cardiomyopathy is a frequent cause of sudden cardiac death in young people and athletes. The aim of our study was to determine the incidence of pathological or likely pathological desmosomal mutations in patients with high-risk definite ARVC.

Methods

This was an observational, retrospective cohort study, which included 36 patients diagnosed with high-risk ARVC in our hospital between January 1998 and January 2015. Genetic analysis was performed using next-generation sequencing.

Results

Most patients were male (28 patients, 78%) with a mean age at diagnosis of 45 ± 18 years. A pathogenic or probably pathogenic desmosomal mutation was detected in 26 of the 35 index cases (74%): 5 nonsense, 14 frameshift, 1 splice, and 6 missense. Novel mutations were found in 15 patients (71%). The presence or absence of desmosomal mutations causing the disease and the type of mutation were not associated with specific electrocardiographic, clinical, arrhythmic, anatomic, or prognostic characteristics.

Conclusions

The incidence of pathological or likely pathological desmosomal mutations in ARVC is very high, with most mutations causing truncation. The presence of desmosomal mutations was not associated with prognosis.

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1885-5857/© 2018 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved

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