Observational studyEuropean journal of human genetics : EJHG2013
Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification.
Observational study in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06376552 (The Use of Artificial Intelligence for the Prioritization of Causative Genetic Background in a Brugada Syndrome Cohort), which is not on this map. Cited by 33 papers, 3 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.
The Use of Artificial Intelligence for the Prioritization of Causative Genetic Background in a Brugada Syndrome Cohort: an Observational Retrospective Study
Who cites it
33 citing papers in PubMed, 3 syntheses or guidelines pooled it, 60 citations in OpenAlex.
- 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
- Standard ECG in Brugada Syndrome as a Marker of Prognosis: From Risk Stratification to Pathophysiological Insights.Journal of the American Heart Association · 2021Pooled it
- SCN5A mutation status increases the risk of major arrhythmic events in Asian populations with Brugada syndrome: systematic review and meta-analysis.Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc · 2019Pooled it
- A Vision Transformer Model for the Prediction of Fatal Arrhythmic Events in Patients with Brugada Syndrome.Sensors (Basel, Switzerland) · 2025Article
- JCS/JHRS 2022 Guideline on Diagnosis and Risk Assessment of Arrhythmia.Journal of arrhythmia · 2024Article
- Multisite Validation of a Functional Assay to AdjudicateCirculation. Genomic and precision medicine · 2024Article
- Multi-site validation of a functional assay to adjudicatemedRxiv : the preprint server for health sciences · 2023Article
- In silico validation revealed the role of SCN5A mutations and their genotype-phenotype correlations in Brugada syndrome.Molecular genetics & genomic medicine · 2023Article
- Unravelling NovelInternational journal of molecular sciences · 2023Article
- Brugada Syndrome: More than a Monogenic Channelopathy.Biomedicines · 2023Review
- Functional Characterisation of the RareInternational journal of molecular sciences · 2023Article
- Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel.Orphanet journal of rare diseases · 2022Article
- Concealed Substrates in Brugada Syndrome: Isolated Channelopathy or Associated Cardiomyopathy?Genes · 2022Review
- Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients.Biomolecules · 2022Article
- Common variants in SCN10A gene associated with Brugada syndrome.Human molecular genetics · 2021Article
- appMAGI: A complete laboratory information management system for clinical diagnostics.Acta bio-medica : Atenei Parmensis · 2020Article
- Update on Genetic Basis of Brugada Syndrome: Monogenic, Polygenic or Oligogenic?International journal of molecular sciences · 2020Review
- Genotype/Phenotype Relationship in a Consanguineal Family With Brugada Syndrome Harboring the R1632C Missense Variant in theFrontiers in physiology · 2019Article
- SCN5A gene mutations and the risk of ventricular fibrillation and syncope in Brugada syndrome patients: A meta-analysis.Journal of arrhythmia · 2018Review
- Dysfunctional Nav1.5 channels due to SCN5A mutations.Experimental biology and medicine (Maywood, N.J.) · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Brugada syndrome is an inherited arrhythmogenic disorder leading to sudden death predominantly in the 3-4 decade. To date the only reliable treatment is the implantation of a cardioverter defibrillator; however, better criteria for risk stratification are needed, especially for asymptomatic subjects. Brugada syndrome genetic bases have been only partially understood, accounting for <30% of patients, and have been poorly correlated with prognosis, preventing inclusion of genetic data in current guidelines. We designed an observational study to identify genetic markers for risk stratification of Brugada patients by exploratory statistical analysis. The presence of genetic variants, identified by SCN5A gene analysis and genotyping of 73 candidate polymorphisms, was correlated with the occurrence of major arrhythmic events in a cohort of 92 Brugada patients by allelic association and survival analysis. In all, 18 mutations were identified in the SCN5A gene, including 5 novel, and statistical analysis indicated that mutation carriers had a significantly increased risk of major arrhythmic events (P=0.024). In addition, we established association of five polymorphisms with major arrhythmic events occurrence and consequently elaborated a pilot risk stratification algorithm by calculating a weighted genetic risk score, including the associated polymorphisms and the presence of SCN5A mutation as function of their odds ratio. This study correlates for the first time the presence of genetic variants with increased arrhythmic risk in Brugada patients, representing a first step towards the design of a new risk stratification model.
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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.