Brugada syndrome: update and future perspectives
- 14 October 2021
- Vol. 108 (9), 668-675
- https://doi.org/10.1136/heartjnl-2020-318258
Abstract
Brugada syndrome (BrS) is an inherited cardiac disorder, characterised by a typical ECG pattern and an increased risk of arrhythmias and sudden cardiac death (SCD). BrS is a challenging entity, in regard to diagnosis as well as arrhythmia risk prediction and management. Nowadays, asymptomatic patients represent the majority of newly diagnosed patients with BrS, and its incidence is expected to rise due to (genetic) family screening. Progress in our understanding of the genetic and molecular pathophysiology is limited by the absence of a true gold standard, with consensus on its clinical definition changing over time. Nevertheless, novel insights continue to arise from detailed and in-depth studies, including the complex genetic and molecular basis. This includes the increasingly recognised relevance of an underlying structural substrate. Risk stratification in patients with BrS remains challenging, particularly in those who are asymptomatic, but recent studies have demonstrated the potential usefulness of risk scores to identify patients at high risk of arrhythmia and SCD. Development and validation of a model that incorporates clinical and genetic factors, comorbidities, age and gender, and environmental aspects may facilitate improved prediction of disease expressivity and arrhythmia/SCD risk, and potentially guide patient management and therapy. This review provides an update of the diagnosis, pathophysiology and management of BrS, and discusses its future perspectives.Keywords
Funding Information
- The Netherlands CardioVascular Research Initiative CVON (PREDICT2 CVON2018-30 to C.A.R.)
This publication has 56 references indexed in Scilit:
- HRS/EHRA/APHRS Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia SyndromesJournal of Arrhythmia, 2014
- Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac deathNature Genetics, 2013
- Low Prevalence of Risk Markers in Cases of Sudden Death Due to Brugada Syndrome: Relevance to Risk Stratification in Brugada SyndromeJournal of Invasive Cardiology, 2011
- The Brugada ECG PatternCirculation: Arrhythmia and Electrophysiology, 2010
- An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testingHeart Rhythm, 2010
- SCN5A Mutations and the Role of Genetic Background in the Pathophysiology of Brugada SyndromeCirculation: Cardiovascular Genetics, 2009
- Drugs and Brugada syndrome patients: Review of the literature, recommendations, and an up-to-date website (www.brugadadrugs.org)Heart Rhythm, 2009
- The Full Stomach Test as a Novel Diagnostic Technique for Identifying Patients at Risk of Brugada SyndromeJournal of Cardiovascular Electrophysiology, 2006
- Right Ventricular Fibrosis and Conduction Delay in a Patient With Clinical Signs of Brugada SyndromeJournal of the American College of Cardiology, 2005
- Right bundle branch block, persistent ST segment elevation and sudden cardiac death: A distinct clinical and electrocardiographic syndrome: A multicenter reportJournal of Invasive Cardiology, 1992