Key result
Brugada syndrome is an autosomal dominant condition characterized by syncopes or sudden death, right bundle branch block, and ST-segment elevations, with SCN5A mutations found in 25% of cases.
This review summarizes the clinical, electrocardiographic, and genetic features of Brugada syndrome, emphasizing the necessity of automatic defibrillators for symptomatic patients.
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Supports ICD use in symptomatic patients; leaves open optimal risk stratification and genetic screening strategies.
Brugada syndrome is characterized clinically by the onset of syncopes or sudden death related to ventricular tachyarrhythmias in patients with a structurally normal heart. Its electrocardiographic features include right bundle branch bloc and ST-segment elevations in the precordial leads V1-V3. The estimated prevalence is 1 per 1000 in Asian countries and probably lower elsewhere: Asia is probably a birthplace of the syndrome. Its transmission is autosomal dominant with variable penetrance. Mutations have been identified in a gene coding for the alpha subunit of the sodium channel (SCN5A) in only 25% of cases. These genetic abnormalities cause a reduction of the density of the sodium current and explain the aggravation of electrocardiographic abnormalities caused by antiarrhythmic sodium channel blockers. Prognosis is very serious in symptomatic patients: prevention of sudden death requires implantation of an automatic defibrillator. The treatment decision is much more difficult for asymptomatic subjects with no family history.
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Denjoy et al. (2007) conducted a review in Brugada syndrome. Brugada syndrome is an autosomal dominant condition characterized by syncopes or sudden death, right bundle branch block, and ST-segment elevations, with SCN5A mutations found in 25% of cases.
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