Deporte y síndromes arritmogénicos hereditarios (Sport and inherited arrhythmogenic syndromes)
DOI:
https://doi.org/10.47197/retos.v51.100148Palabras clave:
Genética. Deporte. Muerte súbita cardíaca. Síndromes arrítmicos hereditariosResumen
Los síndromes arritmogénicos hereditarios son un grupo de patologías cardiacas asociadas a arritmias malignas y un mayor riesgo de muerte súbita cardiaca, en ocasiones la primera manifestación de la patología. Estos síndromes suelen presentarse especialmente en población menor de 35 años, a menudo causando episodios arritmogénicos durante la práctica deportiva. Por esta razón, resulta esencial realizar estudios cardiológicos exhaustivos a deportistas, independientemente del deporte practicado, nivel de exigencia, edad o sexo para la prevención de estos episodios. Las principales entidades incluidas en este grupo son el síndrome de QT largo, el síndrome de Brugada, el síndrome de QT corto y la Taquicardia Ventricular Polimórfica Catecolaminérgica. La comprensión de los mecanismos que predisponen a las arritmias cardiacas hereditarias sigue siendo uno de los retos a resolver por la investigación biomédica ya que algunas de las complicaciones en las arritmias sólo se presentan cuando existe una interacción perfecta entre factores ambientales y genéticos. Los avances en el estudio del genoma humano han permitido identificar multitud de variantes en diversos genes asociados a este tipo de síndromes cardiacos. Al ser síndromes hereditarios, otros miembros de la familia pueden ser portadores del mismo defecto genético por lo que realizar un estudio fenotipo-genotipo en estas familias permite identificar otros miembros a riesgo de padecer episodios arritmogénicos letales.
Palabras claves: Genética. Deporte. Muerte súbita cardíaca. Síndromes arrítmicos hereditarios.
Abstract. 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.
Key Words: Genetics. Sport. Sudden cardiac death. Inherited arrhythmic syndromes.
Citas
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