ReviewGenetics in medicine : official journal of the American College of Medical Genetics2016
Brugada syndrome: clinical and genetic findings.
Review in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04641585 (Brugada Syndrome and Artificial Intelligence Applications to Diagnosis), which is not on this map. Cited by 55 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Brugada Syndrome and Artificial Intelligence Applications to Diagnosis
Who cites it
55 citing papers in PubMed, 2 syntheses or guidelines pooled it, 149 citations in OpenAlex.
- Electrocardiographic Markers Indicating Right Ventricular Outflow Tract Conduction Delay as a Predictor of Major Arrhythmic Events in Patients With Brugada Syndrome: A Systematic Review and Meta-Analysis.Frontiers in cardiovascular medicine · 2022Pooled it
- III SBC Guidelines on the Analysis and Issuance of Electrocardiographic Reports - Executive Summary.Arquivos brasileiros de cardiologia · 2016Guideline
- Selectivity Filter Mutation in NaJACC. Clinical electrophysiology · 2026Article
- Brugadaphobia.The Journal of innovations in cardiac rhythm management · 2025Article
- Resuscitated cardiac arrest due to Brugada syndrome in an Ethiopian man: a case report.BMC cardiovascular disorders · 2025Article
- Multidisciplinary Care Approach to Asymptomatic Brugada Syndrome in Pregnancy: A Case Report.Reports (MDPI) · 2025Article
- Cardiac Channelopathies: Clinical Diagnosis and Promising Therapeutics.Journal of the American Heart Association · 2025Review
- A case report on the safety and efficacy of aripiprazole for depression in Brugada syndrome.The mental health clinician · 2025Article
- Hyperkalemia-induced Brugada phenocopy: a systematic review of case reports.Clinical research in cardiology : official journal of the German Cardiac Society · 2025Review
- A concealed arrhythmia: Brugada phenocopy as a cardiac manifestation of hyperkalaemia in diabetic ketoacidosis.The British journal of cardiology · 2025Article
- Review
- Can Hyperthermia Unveil Brugada Pattern?Journal of medical cases · 2024Article
- Human Genetics of Cardiac Arrhythmias.Advances in experimental medicine and biology · 2024Review
- Brugada syndrome update.Frontiers in physiology · 2024Review
- Unravelling NovelInternational journal of molecular sciences · 2023Article
- Sodium channelopathy with an overlap of Brugada syndrome, paroxysmal atrial fibrillation, and progressive cardiac conduction system dysfunction.HeartRhythm case reports · 2023Article
- Anesthesia in patients with Brugada syndrome: two case reports.Journal of medical case reports · 2023Article
- A Novel DLG1 Variant in a Family with Brugada Syndrome: Clinical Characteristics and In Silico Analysis.Genes · 2023Article
- Molecular autopsy in sudden cardiac death.Global cardiology science & practice · 2023Review
- Molecular autopsy: Twenty years of post-mortem diagnosis in sudden cardiac death.Frontiers in medicine · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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Identifiers
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Registered trials
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.