title: Brugada syndrome: clinical and genetic findings.
abstract: Brugada syndrome is a rare, inherited cardiac disease leading to ventricular fibrillation and sudden cardiac death in structurally normal hearts. Clinical diagnosis requires a Brugada type I electrocardiographic pattern in combination with other clinical features. The most effective approach to unmasking this diagnostic pattern is the use of ajmaline and flecainide tests, and the most effective intervention to reducing the risk of death is the implantation of a cardioverter defibrillator. To date, 18 genes have been associated with the disease, with the voltage-gated sodium channel α type V gene (SCN5A) being the most common one to date. However, only 30-35% of diagnosed cases are attributable to pathogenic variants in known genes, emphasizing the need for further genetic studies. Despite recent advances in clinical diagnoses and genetic testing, risk stratification and clinical management of patients with Brugada syndrome remain challenging.Genet Med 18 1, 3-12.
authors.affiliation: Pediatric Arrhythmia Unit, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
authors.forename: Georgia
authors.identifier: http://orcid.org/0000-0002-6857-8904
authors.initials: G
authors.lastname: Sarquella-Brugada
authors.affiliation: Cardiovascular Genetics Centre, University of Girona-IDIBGI, Girona, Spain.|Department of Medical Sciences, School of Medicine, University of Girona, Spain.
authors.forename: Oscar
authors.initials: O
authors.lastname: Campuzano
authors.affiliation: Arrhythmia Unit, Hospital Clinic de Barcelona, University of Barcelona, Barcelona, Spain.
authors.forename: Elena
authors.identifier: http://orcid.org/0000-0003-0424-6393
authors.initials: E
authors.lastname: Arbelo
authors.affiliation: Pediatric Arrhythmia Unit, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.|Arrhythmia Unit, Hospital Clinic de Barcelona, University of Barcelona, Barcelona, Spain.
authors.forename: Josep
authors.initials: J
authors.lastname: Brugada
authors.affiliation: Cardiovascular Genetics Centre, University of Girona-IDIBGI, Girona, Spain.|Department of Medical Sciences, School of Medicine, University of Girona, Spain.|Cardiology Service, Hospital Josep Trueta, Girona, Spain.
authors.forename: Ramon
authors.initials: R
authors.lastname: Brugada
mesh_terms: D000328:Adult; D000368:Aged; D053840:Brugada Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D002648:Child; D016757:Death, Sudden, Cardiac; D004562:Electrocardiography; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D011247:Pregnancy; D015222:Sodium Channels / Q000378:metabolism
chemical_list: D015222:Sodium Channels