Sodium channelopathies: Do we really understand what's going on?

Journal of Cardiovascular Electrophysiology

Volumn 22, Issue 5, 2011, Pages 590-593

  Postema, Pieter G ^a   Mosterd, Arend ^b   Hofman, Nynke ^a   Alders, Marielle ^a   Wilde, Arthur A M ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b MEANDER MEDICAL CENTER   (Netherlands)

Author keywords

Brugada syndrome; long QT syndrome; sodium channelopathies

Indexed keywords

SODIUM CHANNEL NAV1.5;

AGED; ARTICLE; BRADYCARDIA; BRUGADA SYNDROME; CASE REPORT; ECG ABNORMALITY; FEMALE; GAIN OF FUNCTION MUTATION; GENE MUTATION; GENETIC SCREENING; HETEROZYGOTE; HOLTER MONITORING; HOMOZYGOSITY; HUMAN; LONG QT SYNDROME; LOSS OF FUNCTION MUTATION; PHENOTYPE; PRIORITY JOURNAL; QRS COMPLEX; QT PROLONGATION; SINUS BRADYCARDIA; SINUS RHYTHM; SODIUM CHANNELOPATHY; ST SEGMENT ELEVATION; T WAVE;

AGED; BRUGADA SYNDROME; DIAGNOSIS, DIFFERENTIAL; ELECTROCARDIOGRAPHY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; LONG QT SYNDROME; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; SODIUM CHANNELS;

EID: 79955894444     PISSN: 10453873     EISSN: 15408167     Source Type: Journal    
DOI: 10.1111/j.1540-8167.2010.01892.x     Document Type: Article

References (17)

1. Bennett PB, Yazawa K, Makita N, George AL Jr,: Molecular mechanism for an inherited cardiac arrhythmia. Nature 1995; 376: 683-685.
2. 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.
3. 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. (Pubitemid 28155103)
4. 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. (Pubitemid 29418782)
5. Bezzina CR, Rook MB, Wilde AA,: Cardiac sodium channel and inherited arrhythmia syndromes. Cardiovasc Res 2001; 49: 257-271. (Pubitemid 32119543)
6. Bezzina CR, Rook MB, Groenewegen WA, Herfst LJ, Van Der Wal AC, Lam J, Jongsma HJ, Wilde AA, Mannens MM,: Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system. Circ Res 2003; 92: 159-168. (Pubitemid 36254272)
7. Bezzina C, Veldkamp MW, Van Den Berg MP, Postma AV, Rook MB, Viersma JW, van Langen I, Tan-Sindhunata G, Bink-Boelkens MT, Van Der Hout AH, Mannens MM, Wilde AA,: A single Na(+) channel mutation causing both long-QT and Brugada syndromes. Circ Res 1999; 85: 1206-1213. (Pubitemid 30430627)
8. Postema PG, Van Den Berg MP, van Tintelen JP, Van Den Heuvel F, Grundeken M, Hofman N, Van Der Roest WP, Nannenberg EA, Krapels IP, Bezzina CR, Wilde AA,: Founder mutations in the Netherlands. SCN5a 1795insD, the first described arrhythmia overlap syndrome and one of the largest and best described characterised families worldwide. Neth Heart J 2009; 17: 422-428.
9. Veldkamp MW, Viswanathan PC, Bezzina C, Baartscheer A, Wilde AA, Balser JR,: Two distinct congenital arrhythmias evoked by a multidysfunctional Na(+) channel. Circ Res 2000; 86: E91-E97.
10. Scicluna BP, Wilde AW, Bezzina CR,: The primary arrhythmia syndromes: Same mutation, different manifestations. Are we starting to understand why? J Cardiovasc Electrophysiol 2008; 19: 445-452. (Pubitemid 351457562)
11. Cordeiro JM, Barajas-Martinez H, Hong K, Burashnikov E, Pfeiffer R, Orsino AM, Wu YS, Hu D, Brugada J, Brugada P, Antzelevitch C, Dumaine R, Brugada R,: Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome. Circulation 2006; 114: 2026-2033. (Pubitemid 44706878)
12. Lizotte E, Junttila MJ, Dube MP, Hong K, Benito B, de ZM, Henkens S, Sarkozy A, Huikuri HV, Towbin J, Vatta M, Brugada P, Brugada J, Brugada R,: Genetic modulation of Brugada syndrome by a common polymorphism. J Cardiovasc Electrophysiol 2009; 20: 1137-1141.
13. Makita N, Behr E, Shimizu W, Horie M, Sunami A, Crotti L, Schulze-Bahr E, Fukuhara S, Mochizuki N, Makiyama T, Itoh H, Christiansen M, McKeown P, Miyamoto K, Kamakura S, Tsutsui H, Schwartz PJ, George AL, Roden DM,: The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. J Clin Invest 2008; 118: 2219-2229. (Pubitemid 351872340)
14. Zareba W, Sattari MN, Rosero S, Couderc JP, Moss AJ,: Altered atrial, atrioventricular, and ventricular conduction in patients with the long QT syndrome caused by the DeltaKPQ SCN5A sodium channel gene mutation. Am J Cardiol 2001; 88: 1311-1314. (Pubitemid 33132105)
15. Smits JP, Eckardt L, Probst V, Bezzina CR, Schott JJ, Remme CA, Haverkamp W, Breithardt G, Escande D, Schulze-Bahr E, LeMarec H, Wilde AA,: Genotype-phenotype relationship in Brugada syndrome: Electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients. J Am Coll Cardiol 2002; 40: 350-356. (Pubitemid 34756299)
16. Probst V, Wilde AA, Barc J, Sacher F, Babuty D, Mabo P, Mansourati J, Le Scouarnec S, Kyndt F, Le Caignec C, Guicheney P, Gouas L, Albuisson J, Meregalli PG, Le Marec H, Tan HL, Schott JJ,: SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome. Circ Cardiovasc Genet 2009; 2: 552-557.
17. Gui J, Wang T, Trump D, Zimmer T, Lei M,: Mutation-specific effects of polymorphism H558R in SCN5A-related sick sinus syndrome. J Cardiovasc Electrophysiol 2010; 21: 564-573.