Author + information
- Received April 19, 2018
- Revision received June 11, 2018
- Accepted June 12, 2018
- Published online August 20, 2018.
- Josep Brugada, MD, PhDa,b,c,∗∗ (, )@rbrugada@josep_brugada@UniBarcelona,
- Oscar Campuzano, BSc, PhDc,d,e,∗,
- Elena Arbelo, MD, PhDa,c,
- Georgia Sarquella-Brugada, MD, PhDb,e and
- Ramon Brugada, MD, PhDc,d,e,f
- aInstitut Clínic Cardiovascular (ICCV), Hospital Clínic, Universitat de Barcelona, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain
- bArrhythmias Unit, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain
- cCentro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain
- dCardiovascular Genetics Center, Institut d'Investigació Biomèdica Girona (IDIBGI), University of Girona, Girona, Spain
- eMedical Science Department, School of Medicine, University of Girona, Girona, Spain
- fCardiology Service, Hospital Josep Trueta, Girona, Spain
- ↵∗Address for correspondence:
Dr. Josep Brugada, Institut Clínic Cardiovascular (ICCV), Hospital Clínic, Universitat de Barcelona, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), C/Villarroel 170, 6-3 08036 Barcelona, Spain.
The Brugada syndrome is an inherited disorder associated with risk of ventricular fibrillation and sudden cardiac death in a structurally normal heart. Diagnosis is based on a characteristic electrocardiographic pattern (coved type ST-segment elevation ≥2 mm followed by a negative T-wave in ≥1 of the right precordial leads V1 to V2), observed either spontaneously or during a sodium-channel blocker test. The prevalence varies among regions and ethnicities, affecting mostly males. The risk stratification and management of patients, principally asymptomatic, still remains challenging. The current main therapy is an implantable cardioverter-defibrillator, but radiofrequency catheter ablation has been recently reported as an effective new treatment. Since its first description in 1992, continuous achievements have expanded our understanding of the genetics basis and electrophysiological mechanisms underlying the disease. Currently, despite several genes identified, SCN5A has attracted most attention, and in approximately 30% of patients, a genetic variant may be implicated in causation after a comprehensive analysis.
↵∗ Drs. Brugada and Campuzano contributed equally to this work and are joint first authors.
This work was supported by Obra Social “La Caixa,” Fundacio Daniel Bravo Andreu, and Fondo Investigacion Sanitaria (FIS PI14/01773) from the Instituto de Salud Carlos III (ISCIII). The CIBERCV is an initiative of the ISCIII, Spanish Ministry of Economy and Competitiveness. Dr. Brugada has served as a consultant for FerrerIncode. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose.
- Received April 19, 2018.
- Revision received June 11, 2018.
- Accepted June 12, 2018.
- 2018 American College of Cardiology Foundation
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