Molecular genetics of long QT syndrome from genes to patients

Current Opinion in Cardiology

Volumn 12, Issue 3, 1997, Pages 310-320

  Wang, Qing ^a   Chen, Qiuyun ^a   Li, Hua ^a   Towbin, Jeffrey A ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ELECTRIC CURRENT; ELECTROPHYSIOLOGY; GENE; HEART VENTRICLE ARRHYTHMIA; HUMAN; LONG QT SYNDROME; MOLECULAR GENETICS; PRIORITY JOURNAL; REVIEW; SEIZURE; SUDDEN DEATH; SYNCOPE;

EID: 0030981050     PISSN: 02684705     EISSN: None     Source Type: Journal    
DOI: 10.1097/00001573-199705000-00013     Document Type: Review

References (61)

1. Kannel WB, Cupples A, D'Agostino RB: Sudden death risk in overt coronary heart diseases: the Framingham study. Am Heart J 1987, 113:799-804.
2. Willich SN, Levy D, Rocco MB, Tofler GH, Stone PH, Muller JOE: Circadian variation in the incidence of sudden cardiac death in the Framingham heart study population. Am J Cardiol 1987, 60:801-806.
3. Ward OC: A new familial cardiac syndrome in children. J Ir Med Assoc 1964, 54:103-106.
4. Romano C: Congenital cardiac arrhythmia, Lancet 1965, 1:658-659.
5. Schwartz PJ, Periti M, Malliani A: The long QT syndrome. Am Heart J 1975, 109:378-390.
6. Moss AJ, Schwartz PJ, Crampton R, Tzivoni D, Locati EH, MacCluer J, Hall WJ, Weitkamp L, Vincent GM, Garson A, et al.: The long QT syndrome: prospective longitudinal study of 328 families. Circulation 1991, 84:1136-1144.
7. Vincent GM, Timothy KW, Leppert MF, Keating MT: The spectrum of symptoms and QT intervals in carriers of the gene for the long QT syndrome. N Engl J Med 1992, 327:846-852.
8. Roden DM, Lazzara R, Rosen M, Schwartz PJ, Towbin JA, Vincent GM: Multiple mechanisms in the long QT syndrome, current knowledge, gaps, and future directions. Circulation 1996, 94:1996-2012.
9. Bazett HC: An analysis of the time-relationships of electrocardiograms. Heart 1920, 7:353-370.
10. Schwartz PJ, Moss AJ, Vincent GM, Crampton RS: Diagnostic criteria for the long QT syndrome: an update. Circulation 1993, 88:782-784
11. Keating MT, Atkinson D, Dunn C, Timothy K, Vincent GM, Leppert M: Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene. Science 1991, 252:704-706.
12. Jervel A, Lange-Nielsen F: Congenital deaf mutism, functional heart disease with prolongation of the QT interval, and sudden death. Am Heart J 1957, 54:59-78.
13. Jackman WM, Clark M, Friday KJ, Aliot EM, Anderson J, Lazzara R: Ventricular tachyarrhythmias in the long QT syndromes. Med Clin North Am 1984, 68:1079-1109.
14. Kossmann CE: The long QT interval and syndromes. Adv Intern Med 1987, 32:87-110.
15. Zipes DP: Proarrhythmic effects of antiarrthythmic drugs. Am J Cardiol 1987, 59:26E-31E.
16. The Cardiac Arrhythmia Suppression Trial II Investigators: Effect of the antiarrhythmic agent moricizine on survival after myocardial infarction. N Engl J Med 1992, 327:227-233.
17. Antzelevitch C, Sicouri S: Clinical relevance of cardiac arrhythmias generated by afterdepolarization: role of M cells in the generation of U waves, triggered activity and torsade de pointes. J Am Coll Cardiol 1994, 23:259-277.
18. DiLella AG, Marvit J, Lidsky AS, Guttler F, Woo SLC: Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria. Nature 1986, 322:799-803.
19. Takizawa T, Yoneyama Y, Miwa S, Yoshida A: A single nucleotide base transition is the basis of the common human glucose-6-phosphate dehydrogenase variant A(+). Genomics 1987, 1:228-231,
20. Lathrop GM, Lalouel JM, Julie C, Ott J: Multilocus linkage analysis in humans: detection of linkage and estimate of recombination. Am J Hum Genet 1985, 37:482-498.
21. Keating MT, Atkinson D, Dunn C, Timothy K, Vincent GM, Leppert M: Consistent linkage of the long QT syndrome to the Harvey ras-1 locus on chromosome 11. Am J Hum Genet 1991, 49:1335-1339.
22. Towbin JA, Pagotto L, Siu B, Robinson J, Moss A, McCabe ERB. Hejtmancik JF: Romano-Ward long QT syndrome (RWLQTS): evidence of genetic heterogeneity. Pediatr Res 1992, 31:23A
23. Benhorin J, Kalman YM, Madina A, Towbin J, Rave-Harel N, Dyer TD, Blangero J, MacCluer JW, Kerem B: Evidence of genetic heterogeneity in the long QT syndrome. Science 1993, 260:1960-1962.
24. Curran ME, Atkinson D, Timothy K, Vincent GM, Moss AJ, Leppert M, Keating MT: Locus heterogeneity of autosomal dominant long QT syndrome. J Clin Invest 1993, 92:799-803.
25. Towbin JA, Li H. Taggart T, Lehmann MH, Schwartz PJ, Satler CA, Ayyagari R, Robinson JL, Moss A, Hejtmancik JF: Evidence of genetic heterogeneity in Romano-Ward long QT syndrome: analysis of 23 families. Circulation 1994, 90:2635-2644.
26. Jiang C, Atkinson D, Towbin JA, Splawski I, Lehmann MIH, Li H, Timothy K, Taggart RT, Schwartz PJ, Vincent GM, et al.: Two long QT syndrome loci map to chromosome 3 and 7 with evidence for further heterogeneity. Nat Genet 1994, 8:141-147.
27. Schott J, Charpentier F, Peltier S, Foley P, Drouin E, Bonhour J, Donnelly P, Vergnaud G, Bachner L, Moisan J, et al.: Mapping of a gene for long QT syndrome to chromosome 4q25-27. Am J Hum Genet 1995. 57:1114-1122. Discusses mapping of LQT4 gene.
28. Wang Q, Curran ME, Splawski I, Burn TC, Millholland JM, VanRaay TJ, Shen J, Timothy K, Vincent GM, de Jager T, et al.: Positional cloning of a novel potassium channel gene: KVLTQ1 mutations cause cardiac arrhythmias. Nat Genet 1996, 12:17-23. The cloning of KVLQT1 and the identification of chromosome 11-linked LQT gene (LQT1) are discussed.
29. Russell MW, Dick M II, Collins FS, Brody LC: KVLQT1 mutations in three familial or sporadic long QT syndrome. Hum Mol Genet 1996, 9:1319-1324.
30. Wang Q, Li H, Chen Q, Lehmann MH, Vincent GM, Prior SG, Schwartz PJ, Moss AJ, Towbin JA: Mutations in a novel potassium channel, KVLQT1, cause an inherited cardiac arrhythmia, long QT syndrome. Am J Hum Genet 1996, 59:1696.
31. Ks.
32. Ks.
33. Bonner TI, Buckley NJ, Young AC, Brann MR: Identification of a family of muscarinic acetylcholine receptor genes. Science 1987, 237:527-532
34. Koch MC, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, Zoll B, Lehmann-Horn F, Grzeschik KH, Jentsch TL: The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 1992, 257:797-800.
35. 2+ and modulated by cAMP. Nature 1993, 365:445-448.
36. Warmke JE, Ganetzky B: A family of potassium channel genes related to eag in Drosophila and mammals. Proc Natl Acad Sci U S A 1994, 91:3438-3442.
37. Curran ME, Splawski I, Timothy KW, Vincent GM, Green ED, Keating MT: A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell 1995, 80:795-803. Demonstrates that mutations in HERG cause chromosome 7-linked LQT (LQT2).
38. Schulze-Bahr E, Haverkamp W, Funke H: The long-QT syndrome. N Engl J Med 1995, 333:1783-1784.
39. Dausse E, Berthet M, Denjoy I, Andre-Fouet X, Cruaud C, Bennaceur M, Faure S, Coumel P, Schwartz K, Guicheney P: A mutation in HERG associated with notched T waves in long QT syndrome. J Mol Cell Cardiol 1996, 28:1609-1613.
40. Benson DW, MacRae CA, Vesely MR, Walsh EP, Seidman JG, Seidman CE, Satler CA: Missense mutation in the pore region of HERG causes familiar long QT syndrome. Circulation 1996, 93:1791-1795.
41. Kr.
42. hr.
43. +-channel dysfunction in an inherited cardiac arrhythmia. Proc Natl Acad Sci U S A 1996, 93:2208-2212. Demonstrates that HERG mutations act by a dominant-negative mechanism or a loss-of function mechanism.
44. Chin H, Kozak C, Kim HL, Mock B, McBnde OW: A brain L-type calcium channel a-subunit gene (CCHL1A2) maps to mouse chromosome 14 and human chromosome 3. Genomics 1991, 11:914-919.
45. Seino S, Yamada Y, Espinosa R III, LeBeau M, Bell G: Assignment of the gene encoding the a-subunit of the neuroendocrine/brain type calcium channel (CACNL1A2) to human chromosome 3, band p14.3. Genomics 1992, 13:1375-1377.
46. Weinstein LS, Speigel AM, Carter AD: Cloning and characterization of the human gene for the a-subunit Gi2, a GPT-binding signal transduction protein. FEBS Lett 1988, 232:333-340.
47. Magovcevic I, Ang SL, Seidman JG, Tolman C, Neer E, Mortons C: Regional localization of the human G protein a-2 (GNAI2) gene: assignment to 3p21 and a related sequence (GNAI2L) to 12p12-13. Genomics 1992, 12:125-129.
48. Gellens M, George AL, Chen L, Chahine M, Horn R, Barchi R, Kallen R: Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel. Proc Natl Acad Sci USA 1992, 89:554-558.
49. George AL, Varkony TA, Drakin HA, Han J, Knops JF, Finley WH, Brown GB, Ward DC, Hass M: Assignment of the human heart tetrodotoxin-resistant voltage-gated Na-channel a-subunit gene (SCN5A) to band 3p21. Cytogenet Cell Genet 1995, 68:67-70.
50. Wang Q, Shen J, Splawksi 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. Demonstrates that mutations in the cardiac sodium channel gene SCN5A cause chromosome 3-linked LQT (LQT3)
51. Wang Q, Shen J, Li Z Timothy K, Vincent GM, Priori SG, Schwartz PJ, Keating MT: Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. Hum Mol Genet 1995, 4:1603-1607.
52. Bennett PB, Yazawa K, Makita N, George AL Jr: Molecular mechanism for an inherited cardiac arrhythmia. Nature 1995, 376:683-685. Expression of one SCN5A mutation (AKPQ) in Xenopus oocytes, Demonstrates that the AKPQ mutant channels show a sustained inward sodium current during membrane depolarization. The authors showed that the generation of the sustained inward current was due to long-lasting burst opening of mutant channels.
53. 1644H) showed dispersed reopenings after the initial transient. ΔKPQ showed both dispersed reopenings and long-lasting bursts, which is different from findings made by Bennett et al [52].
54. Lai LP, Deng CL, Moss AJ, Kass RS, Liang CS: Polymorphism of the gene encoding a human minimal potassium ion channel (MinK). Gene 1994, 151:339-340.
55. Arena J, Kass RS: Block of heart potassium channels by clofilium and its tertiary analogs: relationship between drug structure and type of channel blocked. Mol Pharmacol 1988, 34:60-66
56. + channel in mouse heart. EMBO J 1991, 10:2805-2811.
57. + channel blockade and to increase in heart rate. Circulation 1995, 92:3381-3386. Showed that mexiletine. a sodium channel blocking agent, markedly shortens the QT of chromosome 3-linked LQT patients and has only a modest effect on chromosome 7- and 11-linked LQT patients.
58. Comptn SJ, Lux RL, Ramsey MR, Strelich KR, Sanguinetti MC, Green LS, Keating MT, Mason JW: Genetically defined therapy of inherited long-QT syndrome. Circulation 1996, 94:1018-1022. Showed that raising the serum potassium concentration was effective in shortening the QT interval for patients with chromosome 7-linked LQT.
59. Busch AE, Herzer T, Wagner CA, Schmidt F, Raber G, Waldegger S, Lang F: Positive regulation by Chloride blockers of IsK channels expressed in Xenopus oocytes. Mol Pharmacol 1994, 46:750-753.
60. Vincent GM, Fox J, Zhang L, Timothy KW: Beta-blockers reduce risk and syncope in KVLQT1 long QT patients. Circulation 1996, 94(suppl):1184
61. Neyroud N, Tesson F, Denjoy I, Leibovici M, Donger C, Barhanin J, Faure S, Gary F, Coumel P, Petit C: A novel mutation in the potassium channel gene KVLQJ1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nature Genetics 1997, 15:186-189