Key result
Brugada syndrome links sodium channel mutations to ventricular tachyarrhythmias, syncope, and sudden cardiac death.
Why the study?
Brugada syndrome is a channelopathy with genetic and clinical complexity that requires comprehensive understanding of its pathophysiology and clinical manifestations.
This review highlights the genetic basis, clinical presentation, and ECG manifestations of Brugada syndrome, emphasizing its risk for sudden cardiac death.
Reinforces SCD risk awareness in Brugada syndrome; leaves open refined stratification beyond known mutations.
Brugada syndrome is an example of a channelopathy caused by an alteration in the transmembrane ion currents that together constitute the cardiac action potential. Approximately 20% of the cases of Brugada syndrome have been shown to be associated with mutations in the gene coding for the sodium ion channel in the cell membranes of the muscle cells of the heart. Patients with Brugada syndrome are prone to develop ventricular tachyarrhythmias that may lead to syncope, cardiac arrest or sudden cardiac death. Many clinical situations have been reported to unmask or exacerbate the electrocardiography (ECG) pattern of Brugada syndrome. Genetic testing for Brugada syndrome is clinically available. Here we report two cases of Brugada syndrome followed by a comprehensive review of the literature.
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Sheikh et al. (2014) conducted a review in Brugada syndrome (n=2). Brugada syndrome is a channelopathy associated with sodium ion channel mutations that predisposes patients to ventricular tachyarrhythmias, syncope, and sudden cardiac death.
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