Brugada Syndrome

Oscar Campuzano, University of Girona‐IDIBGI, Girona, Spain
Georgia Sarquella‐Brugada, University of Barcelona, Barcelona, Spain
Ramon Brugada, University of Girona‐IDIBGI, Girona, Spain
Josep Brugada, University of Barcelona, Barcelona, Spain
Pedro Brugada, UZ Brussel‐VUB, Brussels, Belgium

Published online: February 2013

DOI: 10.1002/9780470015902.a0003634.pub2

Brugada syndrome (BrS) is characterised by right bundle branch block and persistent ST-segment elevation in right precordial leads. It is responsible for 4–12% of total sudden cardiac death cases and 20% of sudden cardiac death in healthy individuals with structurally normal hearts. The prevalence is difficult to estimate because the pattern is not always recognised or because it may transiently normalise. BrS is more common in males approximately 40 years of age. In individuals with a history of syncope or cardiac arrest, the only effective treatment is the implantable defibrillator. BrS is a familial disease with an autosomal dominant pattern of transmission and variable penetrance. Currently, several mutations have been described in 13 genes being all together responsible for 30–35% of total BrS cases. Identification of relatives at risk using electrocardiogram or molecular genetic testing enables use of preventive measures and avoidance of medications that can induce ventricular arrhythmias.

Key Concepts:

  • The electrocardiographic pattern is the sine qua non of Brugada syndrome diagnosis.
  • The diagnosis of Brugada syndrome is difficult because of incomplete penetrance and dynamic electrocardiographic manifestations.
  • Cardiac events typically occur in men approximately 40 years old, mainly at rest, during sleep.
  • Patients with the typical electrocardiographic pattern who present with cardiac arrest or syncope of suspected cardiac origin should be protected with a defibrillator.
  • The controversy still remains as what to do with asymptomatic patients.
  • The Brugada syndrome is a familial disease inherited with an autosomal dominant pattern of transmission and variable penetrance.
  • Only 30–35% of patients with the clinical phenotype currently have a causative mutation identified.

Keywords: sudden cardiac death; ventricular fibrillation; Brugada syndrome; genetics; SCN5A

Figure 1. Three different ECG patterns in right precordial leads frequently observed in patients with BrS. Type-1 or otherwise called coved-type ECG pattern, in which a descendant ST-segment elevation is followed by negative T waves. Type-2 or saddle-back pattern, a ST-segment elevation followed by positive or biphasic T waves. Type-3, either a coved-type or saddle-back morphology with ST-segment elevation less than 1 mm. A type-1 ECG pattern is required to establish the definite diagnosis of BrS.
Figure 2. Unmasking of the concealed form of Brugada syndrome by the intravenous administration of ajmaline. Note the rapid elevation of the ST segment during administration of the drug.
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Related Sub-Topics:

Specific Genetic Disorders | Mutational Mechanisms of Genetic Disease
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Article Title: Brugada Syndrome
 
How to Cite close
Campuzano, Oscar, Sarquella‐Brugada, Georgia, Brugada, Ramon, Brugada, Josep, and Brugada, Pedro(Feb 2013) Brugada Syndrome. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0003634.pub2]