ReviewFrontiers in cardiovascular medicine2016
The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance.
Review in Frontiers in cardiovascular medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 60 citations in OpenAlex.
- Current Perspective for Atrial Fibrillation in Patients with Brugada Syndrome: A Comprehensive Review.Reviews in cardiovascular medicine · 2025Review
- Genetic Basis of Brugada Syndrome.Biomedicines · 2025Review
- Review
- HiPSC-derived cardiomyocyte to model Brugada syndrome: both asymptomatic and symptomatic mutation carriers reveal increased arrhythmogenicity.BMC cardiovascular disorders · 2023Article
- A Novel DLG1 Variant in a Family with Brugada Syndrome: Clinical Characteristics and In Silico Analysis.Genes · 2023Article
- Brugada Syndrome: From Molecular Mechanisms and Genetics to Risk Stratification.International journal of molecular sciences · 2023Review
- Case report: State-of-the-art risk-modifying treatment of sudden cardiac death in an asymptomatic patient with a mutation in the SCN5A gene and a review of the literature.Frontiers in cardiovascular medicine · 2023Article
- Electrical Storm in a Patient with Brugada Syndrome and Coronavirus Disease 2019.The Journal of innovations in cardiac rhythm management · 2022Article
- Review
- Pathogenesis and drug response of iPSC-derived cardiomyocytes from two Brugada syndrome patients with different NaJournal of biomedical research · 2021Article
- A consistent arrhythmogenic trait in Brugada syndrome cellular phenotype.Clinical and translational medicine · 2021Article
- The Link Between Sex Hormones and Susceptibility to Cardiac Arrhythmias: From Molecular Basis to Clinical Implications.Frontiers in cardiovascular medicine · 2021Review
- Lack of association between mitochondrial DNA haplogroups J and T and clinical manifestation in Russian patients with Brugada syndrome.Biomedical reports · 2020Article
- Brugada Syndrome: Oligogenic or Mendelian Disease?International journal of molecular sciences · 2020Review
- Gender Differences in Arrhythmias: Focused on Atrial Fibrillation.Journal of cardiovascular translational research · 2020Review
- Brugada syndrome: A comprehensive review of pathophysiological mechanisms and risk stratification strategies.International journal of cardiology. Heart & vasculature · 2020Review
- Identification of Novel SCN5A Single Nucleotide Variants in Brugada Syndrome: A Territory-Wide Study From Hong Kong.Frontiers in physiology · 2020Article
- RRAD mutation causes electrical and cytoskeletal defects in cardiomyocytes derived from a familial case of Brugada syndrome.European heart journal · 2019Article
- ECG Diagnosis: Brugada Syndrome.The Permanente journal · 2019Article
- Flecainide-Induced Brugada Syndrome in a Patient With Skeletal Muscle Sodium Channelopathy: A Case Report With Critical Therapeutical Implications and Review of the Literature.Frontiers in neurology · 2018Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
For the last 10 years, applying new sequencing technologies to thousands of whole exomes has revealed the high variability of the human genome. Extreme caution should thus be taken to avoid misinterpretation when associating rare genetic variants to disease susceptibility. The Brugada syndrome (BrS) is a rare inherited arrhythmia disease associated with high risk of sudden cardiac death in the young adult. Familial inheritance has long been described as Mendelian, with autosomal dominant mode of transmission and incomplete penetrance. However, all except 1 of the 23 genes previously associated with the disease have been identified through a candidate gene approach. To date, only rare coding variants in the SCN5A gene have been significantly associated with the syndrome. However, the genotype/phenotype studies conducted in families with SCN5A mutations illustrate the complex mode of inheritance of BrS. This genetic complexity has recently been confirmed by the identification of common polymorphic alleles strongly associated with disease risk. The implication of both rare and common variants in BrS susceptibility implies that one should first define a proper genetic model for BrS predisposition prior to applying molecular diagnosis. Although long remains the way to personalized medicine against BrS, the high phenotype variability encountered in familial forms of the disease may partly find an explanation into this specific genetic architecture.
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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.