Title: Case of Brugada Syndrome
Authors: Dr Rajat Shankarrao Dalal, Dr Anil Modak, Dr Tanuja Manohar, Dr Nalini Humaney
DOI: http://dx.doi.org/10.18535/jmscr/v4i5.05
In 1992 Brugada et al. described clinical entity associated with ST segment elevation in precordial leads (V1 to V3) with incomplete or complete Right Bundle Branch Block and susceptibility to ventricular tachyarrhythmia and sudden cardiac death has been described. The disease is now know as “Brugada syndrome” (BrS). The prevalence of Brugada syndrome is unknown as mostly is goes undiagnosed. Common presentation of Brugada syndrome is syncope typically occuring at rest or during sleep (mostly seen in third or fourth decade of life). Brugada syndrome can be life threatening in some cases as tachycardia does not terminate and it may degenerate into ventricular fibrillation and leads to sudden cardiac death. Brugada syndrome is an autosomal dominant pattern of inheritance. In approximately 20% of the cases BrS is caused by mutations in the SCN5Agene on chromosome 3p21-23, encoding the cardiac sodium channel. SCN5A is a protein involved in the control of myocardial excitability.Sodium channels are heat sensitive so fever can also unmask Brugada syndrome. The use of the implantable cardioverter defibrillator (ICD) is the only therapeutic option of proven efficacy for primary and secondary prophylaxis of cardiac arrest. 1. Priori SG: Foretelling the future in Brugada syndrome: do we have the crystal ball? J Cardiovasc Electrophysiol 2001, 12:1008–1009 2. Priori SG, Napolitano C, Gasparini M, Pappone C, Della BP, Brignole M, Giordano U, Giovannini T, Menozzi C, Bloise R, Crotti L, Terreni L, Schwartz PJ: Clinical and genetic heterogeneity of right bundle branch block and ST-segment elevation syndrome: A prospective evaluation of 52 families. Circulation 2000, 102:2509–2515 3. Antzelevitch C, Brugada P, Borggrefe M, Brugada J, Brugada R, Corrado D, Gussak I, LeMarec H, Nademanee K, Perez Riera AR, Shimizu W, Schulze-Bahr E, Tan H, Wilde A: Brugada syndrome: report of the second consensus conference. Circulation 2005, 111:659–670. 4. Chen Q, Kirsch GE, Zhang D, Brugada R, Brugada J, Brugada P, Potenza D, Moya A, Borggrefe M, Breithardt G, Ortiz-Lopez R, Wang Z, Antzelevitch C, O'Brien RE, Schulze-Bahr E, Keating MT, Towbin JA, Wang Q: Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 1998, 392: 293–296. 5. Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson JL, Moss AJ, Towbin JA, Keating MT: SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 1995, 80:805–811. 6. Kyndt F, Probst V, Potet F, Demolombe S, Chevallier JC, Baro I, Moisan JP, Boisseau P, Schott JJ, Escande D, Le Marec H: Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. Circulation 2001,104:3081–3086 7. Schott JJ, Alshinawi C, Kyndt F, Probst V, Hoorntje TM, Hulsbeek M, Wilde AA, Escande D, Mannens MM, Le Marec H: Cardiac conduction defects associate with mutations in SCN5A. Nat Genet 1999, 23:20–21. 8. Rivolta I, Abriel H, Tateyama M, Liu H, Memmi M, Vardas P, Napolitano C, Priori SG, Kass RS: Inherited brugada and LQT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes. J Biol Chem 2001,276:30623–30630. 9. Priori SG, Napolitano C, Schwartz PJ, Bloise R, Crotti L, Ronchetti E: The elusive link between LQT3 and brugada syndrome: the role of flecainide challenge. Circulation 2000, 102:945–947. 10. Bezzina C, Veldkamp MW, van Den Berg MP, Postma AV, Rook MB, Viersma JW, van Langen IM, Tan-Sindhunata G, Bink-Boelkens MT, Der Hout AH, Mannens MM, Wilde AA: A single Na(+) channel mutation causing both long-QT and Brugada syndromes. Circ Res1999, 85: 1206–1213. 11. Priori SG, Aliot E, Blomstrom-Lundqvist C, Bossaert L, Breithardt G, Brugada P, Camm JA, Cappato R, Cobbe SM, Di Mario C, Maron BJ, McKenna WJ, Pedersen AK, Ravens U, Schwartz PJ, Trusz-Gluza M, Vardas P, Wellens HJ, Zipes DP: Update of the guidelines on sudden cardiac death of the European Society of Cardiology. Eur Heart J 2003, 24:13–1Abstract
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