Brugada syndrome is an inherited arrhythmia syndrome predisposing to sudden cardiac death. Six years after its initial description as a clinical entity, the first mutations in SCN5A encoding the cardiac sodium channel Nav1.5 were reported. Over 300 mutations in SCN5A have since been described in addition to mutations in genes encoding Nav1.5 auxiliary units, potassium and calcium channels. This review summarizes the current knowledge on the genetics of Brugada syndrome, focusing on SCN5A, and discusses its use as a biomarker for diagnosis, prognosis and treatment.
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http://dx.doi.org/10.2217/bmm.13.78 | DOI Listing |
JACC Case Rep
January 2025
Division of Cardiology, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Structural abnormalities within the right ventricular outflow tract (RVOT) can present similarly to Brugada syndrome. A 34-year-old woman with no medical history presented with polymorphic ventricular tachycardia/ventricular fibrillation cardiac arrest and initial electrocardiogram showed type I Brugada pattern. Cardiac magnetic resonance imaging revealed prominent tissue thickening at the RVOT with late gadolinium enhancement.
View Article and Find Full Text PDFJ Am Coll Cardiol
January 2025
Cardiocentro Ticino Institute, Ente Ospedaliero Cantonale, Lugano, Switzerland; Faculty of Biomedical Sciences, Università della Svizzera Italiana, Switzerland. Electronic address:
Acta Anaesthesiol Scand
February 2025
Department of Anesthesiology and perioperative medicine, University Hospital of Brussels, Free University of Brussels, Brussels, Belgium.
Background: The use of local anesthetics (LA) in individuals with Brugada syndrome (BrS) remains a subject of debate due to the lack of large-scale studies confirming their potential risks. This study primarily aimed to evaluate the incidence of new malignant arrhythmias or defibrillation events in patients diagnosed with BrS during the perioperative period, following the administration of local anesthetics, and within 30 days postoperatively. The secondary objective was to analyze the occurrence of adverse effects during hospitalization, as well as 30-day readmission and mortality rates.
View Article and Find Full Text PDFHeart Rhythm
January 2025
Dante Pazzanese Institute of Cardiology, Department of Electrophysiology, São Paulo, Brazil.
Background: Brugada syndrome (BrS) is a genetic heart disease that predisposes individuals to ventricular arrhythmias and sudden cardiac death. Although implantable cardioverter-defibrillators (ICDs) and quinidine are primary treatments, recurrent BrS-triggered ventricular arrhythmias can persist. In this setting, epicardial substrate ablation has emerged as a promising alternative for symptomatic patients.
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