The Brugada syndrome: Clinical, genetic, cellular, and molecular abnormalities

Gerald V. Naccarelli, Charles Antzelevitch

Research output: Contribution to journalReview article

59 Scopus citations

Abstract

The Brugada syndrome is an arrhythmic syndrome characterized by a right bundle branch block pattern and ST segment elevation in the right precordial leads of the electrocardiogram in conjunction with a high incidence of sudden death secondary to ventricular tachyarrhythmias. No evidence of structural heart disease is noted during diagnostic evaluation of these patients. In 25% of families, there appears to be an autosomal dominant mode of transmission with variable expression of the abnormal gene. Mutations have been identified in the gene that encodes the alpha subunit of the sodium channel (SCN5A) on chromosome 3. This genetic defect causes a reduction in the density of the sodium current and explains the worsening of the above electrocardiographic abnormalities when patients are treated with sodium channel blocking antiarrhythmic agents, which further diminish the already reduced sodium current. The prognosis is poor with up to a 10% per year mortality. Antiarrhythmic drugs including beta-blockers and amiodarone have no benefit in prolonging survival. The treatment of choice is the insertion of an implantable cardioverter-defibrillator.

Original languageEnglish (US)
Pages (from-to)573-581
Number of pages9
JournalThe American journal of medicine
Volume110
Issue number7
DOIs
StatePublished - May 2001

All Science Journal Classification (ASJC) codes

  • Medicine(all)

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