Usefulness of Genetic Study by Next-generation Sequencing in High-risk Arrhythmogenic Cardiomyopathy
| Autor: | Amalio Ruiz Salas, Ana Guijarro, José Manuel García Pinilla, Carmen Medina Palomo, Juan José Gómez Doblas, Manuel Jiménez Navarro, Fernando Cabrera Bueno, Javier Alzueta, José Peña Hernández, Eduardo de Teresa, Luis Morcillo-Hidalgo, Alberto Barrera Cordero |
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| Rok vydání: | 2018 |
| Předmět: |
Adult
Male medicine.medical_specialty Adolescent DNA Mutational Analysis Cardiomyopathy 030204 cardiovascular system & hematology medicine.disease_cause Right ventricular cardiomyopathy Frameshift mutation Sudden cardiac death Electrocardiography 03 medical and health sciences 0302 clinical medicine Internal medicine medicine Humans Missense mutation 030212 general & internal medicine Pathological Arrhythmogenic Right Ventricular Dysplasia Aged Retrospective Studies Aged 80 and over Mutation business.industry Retrospective cohort study DNA General Medicine Middle Aged medicine.disease Survival Rate Death Sudden Cardiac Spain Cardiology Female business Follow-Up Studies |
| Zdroj: | Revista Española de Cardiología (English Edition). 71:1018-1026 |
| ISSN: | 1885-5857 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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