Deporte y síndromes arritmogénicos hereditarios (Sport and inherited arrhythmogenic syndromes)

Inherited arrhythmogenic syndromes are a group of cardiac pathologies associated with malignant arrhythmias and sudden cardiac death, sometimes the first manifestation of the pathology. These syndromes usually manifest in the population under 35 years of age, causing arrhythmogenic episodes during s...

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Detalles Bibliográficos
Autores: Sarquella Brugada, Geòrgia, Martínez-Barrios, Estefanía, Cesar, Sergi, Arbelo, Elena, Diez, Carles, Campuzano Larrea, Oscar
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2024
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:10256/24047
Acceso en línea:http://hdl.handle.net/10256/24047
Access Level:acceso abierto
Palabra clave:Mort sobtada
Sudden death
Arrítmia -- Aspectes genètics
Arrhythmia -- Genetic aspects
Descripción
Sumario:Inherited arrhythmogenic syndromes are a group of cardiac pathologies associated with malignant arrhythmias and sudden cardiac death, sometimes the first manifestation of the pathology. These syndromes usually manifest in the population under 35 years of age, causing arrhythmogenic episodes during sports practice. For this reason, carrying out exhaustive cardiological studies on athletes, regardless of the sport practiced, level of demand, age or gender, is essential to prevent these malignant episodes. The main entities included in this group are Long QT syndrome, Brugada syndrome, Short QT syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia. A large part of the mechanisms that predispose to inherited cardiac arrhythmias continue to be one of the challenges to be resolved by biomedical research, since some of the complications in arrhythmias only occur when there is a perfect interaction between environmental and genetic factors. Advances in the study of the genome have made it possible to identify a multitude of variants in numerous genes, being these genetic alterations responsible for the predisposition to arrhythmias. As these are hereditary syndromes, other family members may be carriers of the same genetic defect, so carrying out a phenotype-genotype correlation in these families makes it possible to identify other members at risk of suffering lethal arrhythmogenic episodes