Channelopathies in children and adults

PACE - Pacing and Clinical Electrophysiology

Volumn 31, Issue SUPPL. 1, 2008, Pages

  Wilde, Arthur A M ^a,b  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Clinical; Electrophysiology; Long QT; Pediatrics

Indexed keywords

GLYCEROL 3 PHOSPHATE DEHYDROGENASE; POTASSIUM CHANNEL; SODIUM CHANNEL;

BRUGADA SYNDROME; CHANNELOPATHY; CONFERENCE PAPER; GENE IDENTIFICATION; GENE MUTATION; HEART ARRHYTHMIA; HETEROZYGOTE DETECTION; HUMAN; LIFESTYLE; NONHUMAN; POTASSIUM CHANNELOPATHY; SODIUM CHANNELOPATHY;

ADULT; ARRHYTHMIAS, CARDIAC; CHANNELOPATHIES; CHILD; GENETIC PREDISPOSITION TO DISEASE; HUMANS;

EID: 38449113610     PISSN: 01478389     EISSN: 15408159     Source Type: Journal    
DOI: 10.1111/j.1540-8159.2008.00955.x     Document Type: Conference Paper

References (38)

1. Wilde AAM, Bezzina CR. Genetics in cardiac arrhythmias. Heart 2005 91 : 1352 1358.
2. Priori SG, Napolitano C. Role of genetic analyses in cardiology: Part I: Mendelian diseases: Cardiac channelopathies. Circulation. 2006 113 : 1130 1135.
3. Sanguinetti MC, Curran ME, Spector PS, Keating MT. Spectrum of HERG K+-channel dysfunction in an inherited cardiac arrhythmia. Proc Natl Acad Sci USA 1996 93 : 2208 2212.
4. Anderson CL, Delisle BP, Anson BD, Kilby JA, Will ML, Tester DJ, Gong Q, et al. Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation. 2006 113 : 365 373.
5. Wilde AAM, Roden DM. Predicting the long QT genotype from clinical data. From sense to science. Circulation 2000 102 : 2796 2798.
6. Tan HL, Bardai A, Shimizu W, Moss AJ, Schulze-Bahr E, Noda T, Wilde AAM. Genotype-specific onset of arrhythmias in congenital Long QT syndrome: Possible therapy implications. Circulation 2006 114 : 2096 2103.
7. Shimizu W. The long QT syndrome: Therapeutic implications of a genetic diagnosis. Cardiovasc Res 2005 67 : 347 356.
8. Schwartz PJ, Priori SG, Spazzolini C, Moss AJ, Vincent M, Napolitano C, Denjoy I, et al. Genotype-phenotype correlation in the long-QT syndrome: Gene specific triggers for-life threatening arrhythmias. Circulation 2001 103 : 89 95.
9. Priori SG, Napolitano C, Schwartz PJ, Grillo M, Bloise R, Roncetti E, Moncalvo C, et al. Association of long QT syndrome loci and cardiac events among patients treated with ß-blockers. JAMA 2004 292 : 1341 1344.
10. Moss AJ, Shimizu W, Wilde AAM, Towbin JA, Zareba W, Robinson JL, Qi M, et al. Genotype-phenotype aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. Circulation 2007 115 2481 2489.
11. Zareba W, Moss AJ, Schwartz PJ, Vincent GM, Robinson JL, Priori SG, Benhorin J, et al. Influence of genotype on the clinical course of the long-QT syndrome. N Eng J Med 1998 339 : 960 965.
12. Hofman N, Wilde AAM, Kaab S, van Langen IM, Mannens MM, Hintersee M, Beckmann BM, Tan HL. Diagnostic criteria for congenital long QT syndrome in the era of molecular diagnostics: Do we need a scoring system. Eur Heart J 2007 28 : 575 580.
13. Plaster NM, Tawil R, Tristani-Firouzi M, Canún S, Bendahhou S, Tsunoda A, Ronaldson MR, et al. Mutations in Kir2.1 cause the developmental and electrical phenotypes of Andersen's syndrome. Cell 2001 105 : 511 519.
14. Brugada R, Hong K, Dumaine R, Cordeiro J, Gaíta F, Borggrefe M, Menendez TM, et al. Sudden death associated with short-QT syndrome linked to mutations in HERG. Circulation 2004 109 : 30 35.
15. Bellocq C, van Ginneken ACG, Bezzina CR, Alders M, Escande D, Mannens MMAM, Baró I, et al. Mutation in the KCNQ1 gene leading to the short QT interval syndrome. Circulation 2004 109 : 2394 2397.
16. Priori SG, Pandit SV, Rivolta I, Berenfeld O, Ronchetti E, Dhamoon A, Napolitano C, et al. A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. Circulation 2005 96 : 800 807.
17. Giustetto C, Di Monte F, Wolpert C, Borggrefe M, Schimpf R, Sbragia P, Leone G, et al. Short QT syndrome: Clinical findings and diagnostic-therapeutic implications. Eur Heart J 2006 27 : 2440 2447.
18. Bennett PB, Yazawa K, Makita N. Molecular mechanism for an inherited cardiac arrhythmia. Nature 1995 376 : 683 685.
19. Chen Q, Kirsch GE, Zhang D, Brugada R, Brugada J, Brugada P, Potenza D, et al. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 1998 392 : 293 296.
20. Schott JJ, Alshinawi C, Kyndt F, Probst V, Hoorntje TM, Hulsbeek M, Wilde AAM, et al. Cardiac conduction defects associate with mutations in SCN5A. Nat Genet 1999 23 : 20 21.
21. Bezzina CR, Veldkamp MW, van den Berg MP, Postma AV, Rook MB, Viersma JW, van Langen IM, et al. A single sodium channel mutation causing both long QT- and Brugada syndrome. Circ Res 1999 85 : 1206 1213.
22. Grant AO, Carboni MP, Neplioueva V, Starmer CF, Memmi M, Napolitano C, Priori S. Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation. J Clin Invest 2002 110 : 1201 1209.
23. Bezzina CR, Rook MB, Wilde AAM. Cardiac sodium channel and inherited arrhythmia syndromes. Cardiovasc Res 2001 49 : 257 271.
24. 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 1396.
25. Probst V, Denjoy I, Meregalli PG, Amirault JC, Sacher F, Mansourati J, Babuty D, et al. Clinical aspects and prognosis of Brugada syndrome in children. Circulation 2007 115 : 2042 2048.
26. Skinner JR, Chung SK, Nel CA, Shelling AN, Crawford JR, McKenzie N, Pinnock R, et al. Brugada syndrome masquerading as febrile seizures. Pediatrics 2007 e1206 1211.
27. Beaufort-Krol GCM, van den Berg MP, Wilde AAM, van Tintelen PJ, Viersma JW, Bezzina CR, Bink-Boelkens MThE. Developmental aspects of long QT syndrome and Brugada syndrome based on a single SCN5a mutation in childhood. J Am Coll Cardiol 2005 46 : 331 337.
28. McNair WP, Ku L, Taylor MR, Fain PR, Dao D, Wolfel E, Mestroni L. SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. Circulation. 2004 110 : 2163 2167.
29. Coronel R, Casini S, Koopmann TT, Wilms-Schopman FJG, Verkerk AO, de Groot JR, Bhuiyan ZA, et al. Right ventricular fibrosis and conduction delay in a patient with clinical signs of Brugada syndrome: A combined electrophysiological, genetic, histopathologic and computational study. Circulation 2005 112 : 2769 2777.
30. Frustaci A, Priori SG, Pieroni M, Chimenti C, Napolitano C, Rivolta I, Sanna T, et al. Cardiac histological substrate in patients with clinical phenotype of Brugada syndrome. Circulation 2005 112 : 3680 3687.
31. Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R, Napolitano C, et al. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 2004 119 : 19 31.
32. Antzelevitch C, Pollevick GD, Cordeiro JM, Casis O, Sanguinetti MC, Aizawa Y, Guerchicoff A, 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 : 442 449.
33. Laitinen PJ, Brown KM, Piippo K, Swan H, Devaney JM, Brahmbhatt B, Donarum EA, et al. Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation 2001 103 : 485 490.
34. Priori SG, Napolitano C, Tiso N, Memmi M, Vignati G, Bloise R, Sorrentino V, et al. Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation. 2001 103 : 196 200.
35. Lahat H, Eldar M, Levy-Nissenbaum E, Bahan T, Friedman E, Khoury A, Lorber A, et al. Autosomal recessive catecholamine- or exercise-induced polymorphic ventricular tachycardia: Clinical features and assignment of the disease gene to chromosome 1p13-21. Circulation 2001 103 : 2822 2827.
36. Mohler PJ, Schott J-J, Gramolini AO, Dilly KW, Guatimosim S, duBell WH, Song LS, et al. Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature 2003 421 : 634 639.
37. Vatta M, Ackerman MJ, Ye B, Makielski JC, Ughanze EE, Taylor EW, Tester DJ, et al. Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. Circulation 2006 114 : 2104 2112.
38. London B, Sanyal S, Michalec M, Pfahnl AE, Shang LL, Kerchner BS, Lagana S. A mutation in the glycerol-3-phosphate dehydrogenase 1-like gene (GPD1L) causes Brugada syndrome. (Abstract) Heart Rhythm 2006 3 : S32.