A Variant of Brugada Syndrome

Abstract

Brugada syndrome is an inherited disorder that can present with syncope, cardiac arrest, or sudden cardiac death. Multiple genetic mutations have been described that cause this disease. We present a 56-year-old man who sustained an out-of-hospital cardiac arrest, was resuscitated, and was found to have typical features of the Brugada criteria on the electrocardiogram. Genetic testing was positive for a heterozygous mutation in the sodium voltage-gated channel alpha subunit 5 gene with a p. Leu227Pro (L227P) variant located on exon 6. To our knowledge, this is the first described case with this variant causing malignant arrhythmia with a cardiac arrest.

Brugada Syndrome: Presentation and Management of the Atypical Patient in the Emergent Setting

“…The average age of presentation of Brugada syndrome is 41 years, and men are affected far more frequently than women (9:1 ratio). 3 This syndrome is believed to affect 0.5 per 1000 people worldwide, with Asians affected nine times more often than Caucasians and 36 times more often than Hispanics. 1 All patients, regardless of ethnicity, are predisposed to suffering from ventricular tachycardia, ventricular fibrillation, and sudden cardiac death.…”

“…1 All patients, regardless of ethnicity, are predisposed to suffering from ventricular tachycardia, ventricular fibrillation, and sudden cardiac death. 3 Moreover, patients are predisposed to suffering from concurrent cardiac abnormalities that include right bundle branch block, first-degree AV block, intraventricular conduction delay, and sick sinus syndrome. 4 Clinical Practice and Cases in Emergency Medicine Nguyen et al…”

“…Brugada syndrome, an autosomal dominant disorder of the heart's electrical system, was first described in medical literature in 1992 as a frequent cause of syncope, ventricular tachyarrhythmia, and sudden cardiac death. 2,3 An extremely rare phenomenon affecting an estimated 0.05% of people worldwide, it presents at an average age of 41 years and tends to affect men and those of Asian ancestry most frequently. 3,4 The electrocardiogram (ECG) of a patient with this syndrome classically demonstrates ST-segment elevations in leads V1 to V3 and a right bundle branch block pattern.…”

“…2,3 An extremely rare phenomenon affecting an estimated 0.05% of people worldwide, it presents at an average age of 41 years and tends to affect men and those of Asian ancestry most frequently. 3,4 The electrocardiogram (ECG) of a patient with this syndrome classically demonstrates ST-segment elevations in leads V1 to V3 and a right bundle branch block pattern. 3 Here we discuss a case of an elderly Hispanic patient with no significant past medical history who presented to the emergency department (ED) with first-time signs and symptoms consistent with Brugada syndrome.…”

“…3,4 The electrocardiogram (ECG) of a patient with this syndrome classically demonstrates ST-segment elevations in leads V1 to V3 and a right bundle branch block pattern. 3 Here we discuss a case of an elderly Hispanic patient with no significant past medical history who presented to the emergency department (ED) with first-time signs and symptoms consistent with Brugada syndrome.…”