The occurrence of Brugada syndrome and isolated cardiac conductive disease in the same family could be due to a single SCN5A mutation or to the accidental association of both diseases

Europace

Volumn 10, Issue 1, 2008, Pages 79-85

  Six, Isabelle ^a,b   Hermida, Jean Sylvain ^b   Huang, Hai ^c   Gouas, Laetitia ^d,e   Fressart, Véronique ^d   Benammar, Nawal ^d   Hainque, Bernard ^d   Denjoy, Isabelle ^d,f   Chahine, Mohamed ^c   Guicheney, Pascale ^d,e  

^a INSERM   (France)

^b AMIENS UNIVERSITY HOSPITAL   (France)

^c LAVAL UNIVERSITY   (Canada)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e SORBONNE UNIVERSITÉ   (France)

^f HÔPITAL LARIBOISIÈRE   (France)

Author keywords

Arrhythmia; Cardiac conduction disease; Genetics

Indexed keywords

AJMALINE; FLECAINIDE; LEUCINE; PROLINE; MUSCLE PROTEIN; SCN5A PROTEIN, HUMAN; SODIUM CHANNEL; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; BRUGADA SYNDROME; CHILD; CLINICAL ARTICLE; DISEASE ASSOCIATION; ELECTROCARDIOGRAPHY; FAMILY HISTORY; FEMALE; FOLLOW UP; GENE; GENE MUTATION; GENETIC SCREENING; HEART MUSCLE CONDUCTION DISTURBANCE; HETEROZYGOTE; HUMAN; ISOLATED CARDIAC CONDUCTION DISEASE; MALE; PEDIGREE; PHENOTYPE; PR INTERVAL; PRIORITY JOURNAL; QRS COMPLEX; SCN5A GENE; ST SEGMENT ELEVATION; SUDDEN DEATH; SYNCOPE; GENETICS; HEART ARRHYTHMIA; HEART MUSCLE CONDUCTION SYSTEM; MIDDLE AGED; MUTATION; PATHOPHYSIOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; ARRHYTHMIAS, CARDIAC; BRUGADA SYNDROME; ELECTROCARDIOGRAPHY; FEMALE; HEART CONDUCTION SYSTEM; HUMANS; MALE; MIDDLE AGED; MUSCLE PROTEINS; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SODIUM CHANNELS;

EID: 40349093289     PISSN: 10995129     EISSN: 15322092     Source Type: Journal    
DOI: 10.1093/europace/eum271     Document Type: Article

References (28)

1. Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson JL et al. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 1995;80:805-11.
2. Chen Q, Kirsch GE, Zhang D, Brugada R, Brugada J, Brugada P et al. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 1998;392:293-6.
3. Schott JJ, Alshinawi C, Kyndt F, Probst V, Hoorntje TM, Hulsbeek M et al. Cardiac conduction defects associate with mutations in SCN5A. Nat Genet 1999;23:20-1.
4. Wang Q, Li Z, Shen J, Keating MT. Genomic organization of the human SCN5A gene encoding the cardiac sodium channel. Genomics 1996;34:9-16.
5. Bezzina CR, Rook MB, Wilde AA. Cardiac sodium channel and inherited arrhythmia syndromes. Cardiovasc Res 2001;49:257-71.
6. Brugada P, Brugada J. Right bundle-branch block, persistent ST-segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome: a multicenter report. J Am Coll Cardiol 1992;20:1391-6.
7. Antzelevitch C, Brugada P, Brugada J, Brugada R, Towbin JA, Nademanee K. Brugada syndrome 1992-2002: a historical perspective. J Am Coll Cardiol 2003;41:1665-71.
8. Wilde AA, Antzelevitch C, Borggrefe M, Brugada J, Brugada R, Brugada P et al. Study Group on the Molecular Basis of Arrhythmias of the European Society of Cardiology: Proposed diagnostic criteria for the Brugada syndrome. Circulation 2002;106:2514-9.
9. Yan GX, Antzelevitch C. Cellular basis for the Brugada syndrome and other mechanisms of arrhythmogenesis associated with ST-segment elevation. Circulation 1999;100:1660-6.
10. Brugada J, Brugada P. Further characterization of the syndrome of right bundle branch block, ST segment elevation, and sudden cardiac death. J Cardiovasc Electrophysiol 1997;8:325-31.
11. Antzelevitch C. The Brugada syndrome: ionic basis and arrhythmia mechanisms. J Cardiovasc Electrophysiol 2001;12:268-72.
12. Brugada R, Brugada J, Antzelevitch C, Kirsch GE, Potenza D, Towbin JA et al. Sodium channel blockers identify risk for sudden death in patients with ST-segment elevation and right bundle branch block but structurally normal hearts. Circulation 2000;101:510-5.
13. Tan HL, Bink-Boelkens MT, Bezzina CR, Viswanathan PC, Beaufort-Krol GC, van Tintelen PJ et al. A sodium-channel mutation causes isolated cardiac conduction disease. Nature 2001;409:1043-7.
14. Wang DW, Viswanathan PC, Balser JR, George AL Jr, Benson DW. Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block. Circulation 2002;105:341- 6.
15. 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;104:3081-6.
16. Criteria committee of the New York Association. Nomenclature and Criteria for Diagnosis of Disease of the Heart and Great Vessels. 5th ed. Boston, Mass.: Little, Brown; 1979.
17. Gouas L, Nicaud V, Berthet M, Forhan A, Tiret L, Balkau B et al., D.E.S.I.R. Study Group. Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population. Eur J Hum Genet 2005;13:1213-22.
18. Margolskee RF, McHendry-Rinde B, Horn R. Panning transfected cells for electrophysiological studies. Biotechniques 1993;15:906-11.
19. Jurman ME, Boland LM, Liu Y, Yellen G. Visual identification of individual transfected cells for electrophysiology using antibody-coated beads. Biotechniques 1994;17:876-81.
20. Hamill OP, Marty A, Neher E, Sakmann B, Sigworth FJ. Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches. Pflugers Arch 1981;391:85-100.
21. Probst V, Kyndt F, Potet F, Trochu JN, Mialet G, Demolombe S et al. Haploinsufficiency in combination with aging causes SCN5A-linked hereditary Lenegre disease. J Am Coll Cardiol 2003;41:643-52.
22. Tan HL, Bezzina CR, Smits JP, Verkerk AO, Wilde AA. Genetic control of sodium channel function. Cardiovasc Res 2003;57:961-73.
23. Weiss R, Barmada MM, Nguyen T, Seibel JS, Cavlovich D, Kornblit CA et al. Clinical and molecular heterogeneity in the Brugada syndrome: a novel gene locus on chromosome 3. Circulation 2002;105:707-13.
24. Verkerk AO, Wilders R, Schulze-Bahr E, Beekman L, Bhuiyan ZA, Bertrand J et al. Role of sequence variations in the human ether-a-go-go-related gene (HERG, KCNH2) in the Brugada syndrome. Cardiovasc Res 2005;68:441-53.
25. Viswanathan PC, Benson DW, Balser JR. A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. J Clin Invest 2003;111:341-6.
26. Rossenbacker T, Carroll SJ, Liu H, Kuiperi C, de Ravel TJ, Devriendt K et al. Novel pore mutation in SCN5A manifests as a spectrum of phenotypes ranging from atrial flutter, conduction disease, and Brugada syndrome to sudden cardiac death. Heart Rhythm 2004;1:610-5.
27. Smits JP, Koopmann TT, Wilders R, Veldkamp MW, Opthof T, Bhuiyan ZA et al. A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families. J Mol Cell Cardiol 2005;38:969-81.
28. Hermida JS, Jandaud S, Lemoine JL, Rodriguez-Lafrasse C, Delonca J, Bertrand C et al. Prevalence of drug-induced electrocardiographic pattern of the Brugada syndrome in a healthy population. Am J Cardiol 2004;94:230-3.