MINI REVIEW article
Front. Cardiovasc. Med.
Sec. Cardiac Rhythmology
This article is part of the Research TopicPast, Present, and Future of Brugada Syndrome: A Comprehensive FrameworkView all 4 articles
Current Perspectives on Risk Prediction and Genetic Basis of Brugada Syndrome Past, Present, and Future of Brugada Syndrome: A Comprehensive Framework
Provisionally accepted
- 1Section of Forensic Genetics, Department of Forensic Medicine, University of Copenhagen, Copenhagen, Denmark
- 2Department of Cardiology, The Heart Centre, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
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Brugada syndrome (BrS) is an inherited arrhythmia disorder and a major cause of sudden cardiac death below 50 years. Despite more than three decades of research, diagnosis and risk prediction remain challenging due to variable presentation and incomplete understanding of its genetic basis. The Brugada electrocardiographic pattern is central to diagnosis but lacks specificity, while different scoring systems offer structured assessment yet perform inconsistently in asymptomatic or intermediate-risk patients. SCN5A is the only gene with definitive evidence for causality, but incomplete penetrance and polygenic effects limit its clinical utility. Important gaps remain, including the low diagnostic yield of genetic testing, the unclear course of asymptomatic BrS patients with spontaneous type I electrocardiographic pattern and in geno-negative BrS patients, and the limited validation of current risk models. In this mini review, we explore these challenges and discuss new directions, that could move the field toward more accurate and personalized management.
Keywords: arrhythmia, arrhythmic syncope, Atrial Fibrillation, Brugada Syndrome, BRUGADA-RISK model, Electrocardiographic pattern, SCN5A, Shanghai score
Received: 10 Oct 2025; Accepted: 28 Nov 2025.
Copyright: © 2025 Bhardwaj, Stavnem, Jacobsen, Winkel and Tfelt-Hansen. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Priya Bhardwaj
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