The Brugada syndrome.
The Brugada syndrome is an inherited cardiac disorder initially described in 1992 by Pedro and Josep Brugada, with variable electrocardiographic features characteristic of right bundle-branch block, persistent ST-segment elevation in the precordial leads (VI-V3) at rest and sudden cardiac death. The genetic abnormalities that cause Brugada syndrome have been linked to mutations in the ion channel gene SCN5A which encodes for the alpha-subunit of the cardiac sodium channel. A consensus conference report published in 2002 described the diagnostic criteria for the Brugada syndrome and described the three distinct types of Brugada syndrome. In 2005, a second consensus report was published which described the risk stratification and approaches to therapy. Two specific types of ST-segment elevation, coved and saddleback, are observed in the Brugada syndrome, the former of which is reported to relate to a higher incidence of ventricular tachycardial ventricular fibrillation (VTNF) and sudden cardiac death.The objective of this paper is to review the genetics and the molecular biology behind the Brugada syndrome, the diagnostic criteria, including clinical and electrocardiographic characteristics, and current management.
Escárcega
Ricardo O
RO
Internal Medicine, Temple University Hospital, Philadelphia, Pennsylvania 19140, USA. orlando.escarcega@tuhs.temple.edu
Jiménez-Hernández
Mario
M
Garcia-Carrasco
Mario
M
Perez-Alva
Juan Carlos
JC
Brugada
Josep
J
D001281:Atrial Fibrillation / Q000453:epidemiology / Q000503:physiopathology; D053840:Brugada Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D015897:Comorbidity; D004562:Electrocardiography; D006801:Humans; D009124:Muscle Proteins / Q000235:genetics; D062554:NAV1.5 Voltage-Gated Sodium Channel; D015995:Prevalence; D018570:Risk Assessment; D015222:Sodium Channels / Q000235:genetics
D009124:Muscle Proteins; D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human; D015222:Sodium Channels