Brugada syndrome is characterized by the presence of right bundle branch block on electrocardiography and by ST-segment elevation in the right precordial leads (V1-V3), by the absence of structural cardiac abnormalities, and by episodes of syncope or sudden death. On occasion, diagnosis is made difficult by temporary normalization of the ECG. The condition can be unmasked by potent sodium channel blockers, such as flecainide. Our patient presented with a Brugada syndrome-type ECG after intake of a large amount of cocaine.
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Trends Genet
January 2025
Department of Developmental Genetics, Max Planck Institute for Heart and Lung Research, Bad Nauheim, Hessen, 61231, Germany; German Centre for Cardiovascular Research (DZHK), Partner Site Rhine-Main, Bad Nauheim, Hessen, 61231, Germany; Excellence Cluster Cardio-Pulmonary Institute (CPI), Bad Nauheim, Frankfurt, Giessen, Germany. Electronic address:
The onset and progression of dominant diseases are thought to result from haploinsufficiency or dominant negative effects. Here, we propose transcriptional adaptation (TA), a newly identified response to mRNA decay, as an additional cause of some dominant diseases. TA modulates the expression of so-called adapting genes, likely via mRNA decay products, resulting in genetic compensation or a worsening of the phenotype.
View Article and Find Full Text PDFEur Heart J
December 2024
Department of Cardiology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, No. 168 of Litang Road, Beijing 102218, China.
J Korean Med Sci
January 2025
Division of Cardiology, Department of Internal Medicine, Chonnam National University Medical School, Gwangju, Korea.
Background: The ionic mechanism underlying Brugada syndrome (BrS) arises from an imbalance in transient outward current flow between the epicardium and endocardium. Previous studies report that artemisinin, originally derived from a Chinese herb for antimalarial use, inhibits the Ito current in canines. In a prior study, we showed the antiarrhythmic effects of artemisinin in BrS wedge preparation models.
View Article and Find Full Text PDFJ Mol Cell Cardiol
January 2025
Department of Biochemistry, University of Cambridge, Tennis Court Road, Cambridge CB2 1QW, UK. Electronic address:
Introduction: Brugada Syndrome (BrS) is an inherited arrhythmia syndrome characterised by ST-segment elevation in the right precordial ECG leads and is associated with an increased risk of sudden cardiac death. We identify and characterise a novel SCN3B variant encoding the regulatory β3-subunit of the cardiac voltage-gated sodium channel, Na1.5.
View Article and Find Full Text PDFA A Pract
January 2025
Division of Anaesthesiology and Perioperative Medicine, Department of Pain Medicine, Singapore General Hospital, Singapore.
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