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Brugada syndrome (BrS) is a rare, genetically predisposed arrhythmic disorder associated with an elevated risk of sudden cardiac death (SCD) due to ventricular arrhythmias. Fever is a recognized trigger that can unmask the Type 1 Brugada electrocardiogram (ECG) pattern and precipitate life-threatening arrhythmias, even in individuals without prior cardiac symptoms. A 38-year-old male with no known cardiac history presented with fever, palpitations, and dizziness.

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Long-term prognosis of patients with an SCN5A loss-of-function variant and progressive cardiac conduction disorder or Brugada syndrome.

Heart Rhythm

May 2025

Department of Clinical Cardiology, Heart Center, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands; European Reference Network for rare, low prevalence, and complex diseases of the heart (ERN GUARD-Heart), Amsterdam, The Netherlands. Electronic address: a.s.am

Background: The long-term prognosis of patients with a loss-of-function variant in the cardiac sodium channel gene SCN5A is unknown.

Objective: This study aimed to evaluate the long-term arrhythmic risk in patients with an SCN5A loss-of-function variant to identify predictors of arrhythmic events.

Methods: Probands and family members with (likely) pathogenic SCN5A loss-of-function variants were retrospectively included.

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Article Synopsis
  • Brugada syndrome is a heart condition linked to sudden cardiac events, primarily caused by mutations in the sodium channel gene, SCN5A.
  • A case study involved a 25-year-old woman with a heart defect who tested positive for a new variant of the SCN5A gene, despite having no prior symptoms or family history of the syndrome.
  • The findings suggest that this new gene variant could have harmful impacts, further emphasizing the importance of genetic screening in asymptomatic individuals.
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The conus artery (CA) supplies the right ventricular outflow tract (RVOT). ST-segment elevation in leads V1-3, which can resemble Brugada electrocardiogram (EKG) patterns, has been reported due to occlusion of the CA. A 68-year-old male was admitted to the hospital with a diagnosis of non-ST-elevation myocardial infarction.

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Molecular autopsy has recently been gaining attention as a means of postmortem diagnosis; however, it is usually performed using the victim's blood sample at the time of death. Here, we report the first case of a deceased infant with Brugada syndrome whose diagnosis was made with banked cord blood. A seemingly healthy 1-year-old male infant collapsed while having a fever; this collapse was witnessed by his mother.

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