ArticleEuropean heart journal2021
Brugada syndrome genetics is associated with phenotype severity.
Article in European heart journal, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers, 2 of them syntheses that pooled it.
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Who cites it
62 citing papers in PubMed, 2 syntheses or guidelines pooled it, 105 citations in OpenAlex.
- Catheter Ablation vs. Standard Implantable Cardioverter Defibrillator Therapy in Symptomatic Brugada Syndrome: A Systematic Review and Meta-Analysis of Controlled Studies.Medical sciences (Basel, Switzerland) · 2025Pooled it
- The SCN5A Gene Is a Predictor of Phenotype Severity in Brugada Syndrome: A Comprehensive Literature Review.Medical principles and practice : international journal of the Kuwait University, Health Science Centre · 2023Pooled it
- Epicardial ablation in high-risk Brugada syndrome to prevent ventricular fibrillation: results from a randomized clinical trial.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2025Trial
- Brugada Syndrome: an exemplar for the genomic basis of sudden death.European journal of human genetics : EJHG · 2026Review
- SCN5AInternational journal of legal medicine · 2026Article
- Hypokalaemia and bradycardia unmask the loss-of-function phenotype of a Brugada Syndrome SCN5A mutation.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2026Article
- Contemporary Perspectives on J-Wave Syndromes: An Expert Consensus Statement.Journal of arrhythmia · 2026Article
- Brugada Phenocopy in Hypothyroidism.CJC open · 2025Article
- Risk stratification of major arrhythmia events in Japanese patients with Brugada syndrome using machine learning models.Heart rhythm O2 · 2025Article
- Clinical Features of Brugada Syndrome Patients With SCN5A Variants.Journal of cardiovascular electrophysiology · 2025Article
- Optimizing C-Type Natriuretic Peptide and Receptor Expression Analysis with Droplet Digital™ PCR: Advancing Biomarker Discovery for Brugada Syndrome?Biomolecules · 2025Article
- Brugada syndrome.Nature reviews. Disease primers · 2025Review
- Effectiveness of resveratrol in inducing adeno-associated virus as a potential definitive therapy for SCN5A mutation in Brugada syndrome: a narrative review.The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology · 2025Review
- Cardiac Channelopathies: Clinical Diagnosis and Promising Therapeutics.Journal of the American Heart Association · 2025Review
- SCN5A variant type-dependent risk prediction in Brugada syndrome.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2025Article
- A Rare Noncoding Enhancer Variant inCirculation · 2025Article
- Current perspectives on risk prediction and genetic basis of Brugada syndrome.Frontiers in cardiovascular medicine · 2025Review
- Review
- NaV1.5 autoantibodies in Brugada syndrome: pathogenetic implications.European heart journal · 2024Article
- Zebrafish as a Model System for Brugada Syndrome.Reviews in cardiovascular medicine · 2024Review
2 more citing papers are in PubMed but not listed here.
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Authors and funding
25 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimsBrugada syndrome (BrS) is associated with an increased risk of sudden cardiac death due to ventricular tachycardia/fibrillation (VT/VF) in young, otherwise healthy individuals. Despite SCN5A being the most commonly known mutated gene to date, the genotype-phenotype relationship is poorly understood and remains uncertain. This study aimed to elucidate the genotype-phenotype correlation in BrS. METHODS AND
resultsBrugada syndrome probands deemed at high risk of future arrhythmic events underwent genetic testing and phenotype characterization by the means of epicardial arrhythmogenic substrate (AS) mapping, and were divided into two groups according to the presence or absence of SCN5A mutation. Two-hundred probands (160 males, 80%; mean age 42.6 ± 12.2 years) were included in this study. Patients harbouring SCN5A mutations exhibited a spontaneous type 1 pattern and experienced aborted cardiac arrest or spontaneous VT/VF more frequently than the other subjects. SCN5A-positive patients exhibited a larger epicardial AS area, more prolonged electrograms and more frequently observed non-invasive late potentials. The presence of an SCN5A mutation explained >26% of the variation in the epicardial AS area and was the strongest predictor of a large epicardial area.
conclusionIn BrS, the genetic background is the main determinant for the extent of the electrophysiological abnormalities. SCN5A mutation carriers exhibit more pronounced epicardial electrical abnormalities and a more aggressive clinical presentation. These results contribute to the understanding of the genetic determinants of the BrS phenotypic expression and provide possible explanations for the varying degrees of disease expression.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.