New Journal Website is available at: http://www.journalonweb.com/rcm

Published by: Kowsar

A1427S Missense Mutation in SCN5A Causes Type 1 Brugada Pattern, Recurrent Ventricular Tachyarrhythmias and Right Ventricular Structural Abnormalities

Ka Hou Christien Li 1 , 2 , Tong Liu 3 , Olivia Tsz Ling To 1 , Yat Sun Chan 1 , Gary Tse 1 , 4 , * and Bryan P Yan 1 , 5 , *
Authors Information
1 Department of Medicine and Therapeutics, Faculty of Medicine, Chinese University of Hong Kong, Hong Kong, SAR, P.R. China
2 Faculty of Medicine, Newcastle University, United Kingdom
3 Tianjin Key Laboratory of Ionic-Molecular Function of Cardiovascular Disease, Department of Cardiology, Tianjin Institute of Cardiology, Second Hospital of Tianjin Medical University, Tianjin 300211, People’s Republic of China
4 Li Ka Shing Institute of Health Sciences, Faculty of Medicine, Chinese University of Hong Kong, Hong Kong, SAR, P.R. China
5 Department of Epidemiology and Preventive Medicine, Monash University, Melbourne, Australia
Corresponding Authors:
Article information
  • Research in Cardiovascular Medicine: May 2017, 6 (3); e42085
  • Published Online: December 18, 2016
  • Article Type: Case Report
  • Received: September 5, 2016
  • Revised: November 12, 2016
  • Accepted: December 9, 2016
  • DOI: 10.5812/cardiovascmed.42085

To Cite: Christien Li K H, Liu T, Ling To O T, Sun Chan Y, Tse G, et al. A1427S Missense Mutation in SCN5A Causes Type 1 Brugada Pattern, Recurrent Ventricular Tachyarrhythmias and Right Ventricular Structural Abnormalities, Res Cardiovasc Med. 2017 ;6(3):e42085. doi: 10.5812/cardiovascmed.42085.

Abstract
Copyright: Copyright © 2017, Research in Cardiovascular Medicine. .
1. Introduction
2. Case Presentation
3. Discussion
Acknowledgements
References
  • 1. Probst V, Wilde AA, Barc J, Sacher F, Babuty D, Mabo P, et al. SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome. Circ Cardiovasc Genet. 2009; 2(6): 552-7[DOI][PubMed]
  • 2. Grant AO. Cardiac ion channels. Circ Arrhythm Electrophysiol. 2009; 2(2): 185-94[DOI][PubMed]
  • 3. Tse G, Wong ST, Tse V, Yeo JM. Depolarization vs. repolarization: what is the mechanism of ventricular arrhythmogenesis underlying sodium channel haploinsufficiency in mouse hearts? Acta Physiol (Oxf). 2016; 218(4): 234-5[DOI][PubMed]
  • 4. Tse G. (Tpeak - Tend)/QRS and (Tpeak - Tend)/(QT x QRS): novel markers for predicting arrhythmic risk in the Brugada syndrome. Europace. 2016; [DOI][PubMed]
  • 5. Tse G, Yan BP. Novel arrhythmic risk markers incorporating QRS dispersion: QRSd x (Tpeak - Tend )/QRS and QRSd x (Tpeak - Tend )/(QT x QRS). Ann Noninvasive Electrocardiol. 2016; [DOI][PubMed]
  • 6. Tse G. Novel conduction-repolarization indices for the stratification of arrhythmic risk. J Geriatr Cardiol. 2016; 13(9): 811-2[DOI][PubMed]
  • 7. Liu T, Zheng J, Yan GX. J Wave Syndromes: History and Current Controversies. Korean Circ J. 2016; 46(5): 601-9[DOI][PubMed]
  • 8. Tse G, Yan BP. Traditional and novel electrocardiographic conduction and repolarization markers of sudden cardiac death. Europace. 2016; [DOI][PubMed]
  • 9. Tse G. Both transmural dispersion of repolarization and of refractoriness are poor predictors of arrhythmogenicity: a role for iCEB (QT/QRS)? J Geriatr Cardiol. 2016; 13(9): 813-4[DOI][PubMed]
  • 10. Tse G, Wong ST, Tse V, Yeo JM. Variability in local action potential durations, dispersion of repolarization and wavelength restitution in aged wild-type and Scn5a+/− mouse hearts modelling human Brugada syndrome. J Geriatr Cardiol. 2016;
  • 11. Tse G. Mechanisms of cardiac arrhythmias. J Arrhythm. 2016; 32(2): 75-81[DOI][PubMed]
  • 12. Tse G, Wong ST, Tse V, Lee YT, Lin HY, Yeo JM. Cardiac dynamics: Alternans and arrhythmogenesis. J Arrhythm. 2016; 32(5): 411-7[DOI][PubMed]
  • 13. Tse G, Liu T, Li KH, Laxton V, Chan YW, Keung W, et al. Electrophysiological Mechanisms of Brugada Syndrome: Insights from Pre-clinical and Clinical Studies. Front Physiol. 2016; 7: 467[DOI][PubMed]
  • 14. Letsas KP, Liu T, Shao Q, Korantzopoulos P, Giannopoulos G, Vlachos K, et al. Meta-Analysis on Risk Stratification of Asymptomatic Individuals With the Brugada Phenotype. Am J Cardiol. 2015; 116(1): 98-103[DOI][PubMed]
  • 15. Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, et al. Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. Europace. 2013; 15(10): 1389-406[DOI][PubMed]
  • 16. Yan GX, Antzelevitch C. Cellular basis for the Brugada syndrome and other mechanisms of arrhythmogenesis associated with ST-segment elevation. Circulation. 1999; 100(15): 1660-6[DOI][PubMed]
  • 17. Watanabe H, Minamino T. Genetics of Brugada syndrome. J Hum Genet. 2016; 61(1): 57-60[DOI][PubMed]
  • 18. Valdivia CR, Tester DJ, Rok BA, Porter CB, Munger TM, Jahangir A, et al. A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs. Cardiovasc Res. 2004; 62(1): 53-62[DOI][PubMed]
  • 19. Kyndt F, Probst V, Potet F, Demolombe S, Chevallier JC, Baro I, et al. Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. Circulation. 2001; 104(25): 3081-6[DOI][PubMed]
  • 20. Bezzina C, Veldkamp MW, van Den Berg MP, Postma AV, Rook MB, Viersma JW, et al. A single Na(+) channel mutation causing both long-QT and Brugada syndromes. Circ Res. 1999; 85(12): 1206-13[DOI][PubMed]
  • 21. Dumaine R, Towbin JA, Brugada P, Vatta M, Nesterenko DV, Nesterenko VV, et al. Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. Circ Res. 1999; 85(9): 803-9[DOI][PubMed]
  • 22. Akai J, Makita N, Sakurada H, Shirai N, Ueda K, Kitabatake A, et al. A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome. FEBS Lett. 2000; 479(1-2): 29-34[DOI][PubMed]
  • 23. Amin AS, Verkerk AO, Bhuiyan ZA, Wilde AA, Tan HL. Novel Brugada syndrome-causing mutation in ion-conducting pore of cardiac Na+ channel does not affect ion selectivity properties. Acta Physiol Scand. 2005; 185(4): 291-301[DOI][PubMed]
  • 24. London B, Michalec M, Mehdi H, Zhu X, Kerchner L, Sanyal S, et al. Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias. Circulation. 2007; 116(20): 2260-8[DOI][PubMed]
  • 25. Kattygnarath D, Maugenre S, Neyroud N, Balse E, Ichai C, Denjoy I, et al. MOG1: a new susceptibility gene for Brugada syndrome. Circ Cardiovasc Genet. 2011; 4(3): 261-8[DOI][PubMed]
  • 26. Ishikawa T, Sato A, Marcou CA, Tester DJ, Ackerman MJ, Crotti L, et al. A novel disease gene for Brugada syndrome: sarcolemmal membrane-associated protein gene mutations impair intracellular trafficking of hNav1.5. Circ Arrhythm Electrophysiol. 2012; 5(6): 1098-107[DOI][PubMed]
  • 27. Cerrone M, Lin X, Zhang M, Agullo-Pascual E, Pfenniger A, Chkourko Gusky H, et al. Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype. Circulation. 2014; 129(10): 1092-103[DOI][PubMed]
  • 28. Hennessey JA, Marcou CA, Wang C, Wei EQ, Wang C, Tester DJ, et al. FGF12 is a candidate Brugada syndrome locus. Heart Rhythm. 2013; 10(12): 1886-94[DOI][PubMed]
  • 29. Bezzina CR, Barc J, Mizusawa Y, Remme CA, Gourraud JB, Simonet F, et al. Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. Nat Genet. 2013; 45(9): 1044-9[DOI][PubMed]
  • 30. Boukens BJ, Sylva M, de Gier-de Vries C, Remme CA, Bezzina CR, Christoffels VM, et al. Reduced sodium channel function unmasks residual embryonic slow conduction in the adult right ventricular outflow tract. Circ Res. 2013; 113(2): 137-41[DOI][PubMed]
  • 31. Tse G, Yeo JM. Conduction abnormalities and ventricular arrhythmogenesis: The roles of sodium channels and gap junctions. Int J Cardiol Heart Vasc. 2015; 9: 75-82[DOI][PubMed]
  • 32. Antzelevitch C, Pollevick GD, Cordeiro JM, Casis O, Sanguinetti MC, Aizawa Y, et al. Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. Circulation. 2007; 115(4): 442-9[DOI][PubMed]
  • 33. Hu D, Barajas-Martinez H, Nesterenko VV, Pfeiffer R, Guerchicoff A, Cordeiro JM, et al. Dual variation in SCN5A and CACNB2b underlies the development of cardiac conduction disease without Brugada syndrome. Pacing Clin Electrophysiol. 2010; 33(3): 274-85[DOI][PubMed]
  • 34. Burashnikov E, Pfeiffer R, Barajas-Martinez H, Delpon E, Hu D, Desai M, et al. Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. Heart Rhythm. 2010; 7(12): 1872-82[DOI][PubMed]
  • 35. Antzelevitch C, Yan GX, Ackerman MJ, Borggrefe M, Corrado D, Guo J, et al. J-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledge: Endorsed by the Asia Pacific Heart Rhythm Society (APHRS), the European Heart Rhythm Association (EHRA), the Heart Rhythm Society (HRS), and the Latin American Society of Cardiac Pacing and Electrophysiology (Sociedad Latinoamericana de Estimulacifin Cardiaca y Electro fi siologia [SOLAECE]). Europace. 2016; [DOI][PubMed]
  • 36. Marcus FI, McKenna WJ, Sherrill D, Basso C, Bauce B, Bluemke DA, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria. Circulation. 2010; 121(13): 1533-41[DOI][PubMed]
  • 37. Choy L, Yeo JM, Tse V, Chan SP, Tse G. Cardiac disease and arrhythmogenesis: Mechanistic insights from mouse models. Int J Cardiol Heart Vasc. 2016; 12: 1-10[DOI][PubMed]
  • 38. Mizusawa Y, Wilde AA. Brugada syndrome. Circ Arrhythm Electrophysiol. 2012; 5(3): 606-16[DOI][PubMed]
  • 39. Tse G, Ali A, Prasad SK, Vassiliou V, Raphael CE. Atypical case of post-partum cardiomyopathy: an overlap syndrome with arrhythmogenic right ventricular cardiomyopathy? Bjr|Case Reports. 2015;; 1(2): 20150182[DOI]
  • 40. Agullo-Pascual E, Cerrone M, Delmar M. Arrhythmogenic cardiomyopathy and Brugada syndrome: diseases of the connexome. FEBS Lett. 2014; 588(8): 1322-30[DOI][PubMed]
  • 41. Shaw RM. Reduced sodium channels in human ARVC. Heart Rhythm. 2013; 10(3): 420-1[DOI][PubMed]
  • 42. Corrado D, Basso C, Thiene G. Is it time to include ion channel diseases among cardiomyopathies? J Electrocardiol. 2005; 38(4 Suppl): 81-7[DOI][PubMed]
  • 43. Dendramis G. Brugada syndrome and Brugada phenocopy. The importance of a differential diagnosis. Int J Cardiol. 2016; 210: 25-7[DOI][PubMed]
  • 44. Xiong Q, Cao L, Hu J, Marian AJ, Hong K. A rare loss-of-function SCN5A variant is associated with lidocaine-induced ventricular fibrillation. Pharmacogenomics J. 2014; 14(4): 372-5[DOI][PubMed]
Creative Commons License Except where otherwise noted, this work is licensed under Creative Commons Attribution Non Commercial 4.0 International License .

Search Relations:

Author(s):

Article(s):

Create Citiation Alert
via Google Reader