Genetic basis in Brugada Syndrome – Cardiology MCQ – Answer

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Genetic basis in Brugada Syndrome – Cardiology MCQ – Answer

Genetic basis in Brugada Syndrome has been identified in — percentage of cases currently – Correct answer: a) 30%

Though autosomal dominant pattern of inheritance has been noted in Brugada syndrome, pathogenic mutations have not been detected in 70% of the cases [1]. The first mutation to be identified in the syndrome was in the sodium channel gene SCN5A in 1998 [2]. Even today most of the mutations detected in the syndrome are in the same gene (21%). Several other potential genes have been identified (CACNA1C, GPD1L, HEY2, PKP2, RANGRF, SCN10A, SCN1B, SCN2B, SCN3B, SLMAP, and TRPM4), but all of them together contribute to only 2% – 5% of the diagnoses cases [3].

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Reference

  1. Kapplinger JD, Tester DJ, Alders M, Benito B, Berthet M, Brugada J, Brugada P, Fressart V, Guerchicoff A, Harris-Kerr C, Kamakura S, Kyndt F, Koopmann TT, Miyamoto Y, Pfeiffer R, Pollevick GD, Probst V, Zumhagen S, Vatta M, Towbin JA, Shimizu W, Schulze-Bahr E, Antzelevitch C, Salisbury BA, Guicheney P, Wilde AA, Brugada R, Schott JJ, Ackerman MJ. An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 Jan;7(1):33-46.
  2. 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 Mar 19;392(6673):293-6.
  3. Brugada J, Campuzano O, Arbelo E, Sarquella-Brugada G, Brugada R. Present Status of Brugada Syndrome: JACC State-of-the-Art Review. J Am Coll Cardiol. 2018 Aug 28;72(9):1046-1059.