title: [Brugada syndrome].
abstract: Brugada syndrome (BrS) is, along with the long QT syndrome, one of the most frequently diagnosed inherited arrhythmogenic syndromes. It is a primary electric heart disease manifested by ST segment elevations in the right precordial leads. BrS is responsible for more than 4% of all sudden deaths and at least 20% of sudden deaths in patients with structurally normal hearts. In 1998, the first mutations in the gene coding the structure of the cardiac sodium channel were identified in patients with BrS. Nowadays, several hundreds of mutations in at least 8 genes have been already associated with BrS. Functional consequences of many of these mutations on the molecular level have been revealed and, in some of them, even the consequences for the overall cardiac electrophysiology were suggested thank to the mathematical modelling. However, despite intense study of many scientific teams and formulation of several hypotheses, arrhythmogenic mechanisms in BrS have not been fully elucidated yet. This review provides a contemporary view of clinical symptoms, pathophysiology, diagnostics and therapy in BrS.
authors.affiliation: Fyziologický ustav Lékarské fakulty MU Brno. bebarova.lfmu@centrum.cz
authors.forename: Markéta
authors.initials: M
authors.lastname: Bébarová
mesh_terms: D053840:Brugada Syndrome / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D006801:Humans