Mechanisms of Genetic Arrhythmias: From DNA to ECG

Progress in Cardiovascular Diseases

Volumn 46, Issue 3, 2003, Pages 259-270

  Glaaser, Ian W ^a   Kass, Robert S ^a   Clancy, Colleen E ^a  

^a Columbia University ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARRHYTHMOGENESIS; CONGENITAL HEART DISEASE; DNA DETERMINATION; ELECTROCARDIOGRAM; FAMILY HISTORY; GENE MUTATION; GENETIC DISORDER; GENETIC POLYMORPHISM; HEART ARRHYTHMIA; HEART MUSCLE; HEART MUSCLE EXCITABILITY; HEREDITY; HUMAN; ION CURRENT; MUSCLE RELAXATION; PHENOTYPE; REVIEW; SEIZURE; SUDDEN DEATH; SYNCOPE;

EID: 0346249876     PISSN: 00330620     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0033-0620(03)00073-2     Document Type: Article

References (105)

1. Roden DM, Balser JR, George AL, et al: Cardiac ion channels. Ann Rev Physiol 64:431-475, 2002
2. Gima K, Rudy Y: Ionic current basis of electrocardiographic waveforms - a model study. Circ Res 90:889-896, 2002
3. Antzelevitch C, Yan G, Shimuzu W, et al: Electrical heterogeneity, the ECG, and cardiac arrhythmias, in Zipes DP, Jalife J (eds): Cardiac Electrophysiology: From Cell to Bedside. Philadelphia, WB Saunders Co, pp 222-238, 2000
4. Shimizu W, Antzelevitch C: Sodium channel block with mexiletine is effective in reducing dispersion of repolarization and preventing torsade des pointes in LQT2 and LQT3 models of the long-QT syndrome. Circulation 96:2038-2047, 1997
5. Antzelevitch C, Sicouri S, Litovsky SH, et al: Heterogeneity within the ventricular wall. Electrophysiology and pharmacology of epicardial, endocardial, and M cells. Circ Res 69:1427-1449, 1991
6. Tan HL, Bink-Boelkens MTE, Bezzina CR, et al: A sodium-channel mutation causes isolated cardiac conduction disease. Nature 409:1043-1047, 2001
7. Brugada J, Brugada R, Brugada P: Right bundle-branch block and ST-segment elevation in leads V-1 through V-3 - a marker for sudden death in patients without demonstrable structural heart disease. Circulation 97:457-460, 1998
8. Chen QY, Kirsch GE, Zhang DM, et al: Genetic basis and molecular mechanism for idiopathic: Ventricular fibrillation. Nature 392:293-296, 1998
9. Brugada J, Brugada R, Antzelevitch C, et al: Arrhythmic events in patients with right bundle branch block and ST-segment elevation in right precordial leads. Eur Heart J 22:17, 2001
10. Dumaine R, Towbin JA, Brugada PPB, et al: Ionic mechanisms responsible far the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. Circ Res 85:803-809, 1999
11. Shimizu W, Antzelevitch C: Cellular basis for long QT, transmural dispersion of repolarization, and torsade de pointes in the long QT syndrome. J Electrocardiol 32:177-184, 1999
12. Priori SG, Mortara DW, Napolitano C, et al: Evaluation of the spatial aspects of T-wave complexity in the long-QT syndrome. Circulation 96:3006-3012, 1997
13. Zhang L, Timothy KW, Vincent GM, et al: Spectrum of ST-T-wave patterns and repolarization parameters in congential long-QT syndrome: ECG findings identify genotypes. Circulation 102:2849-2855, 1999
14. Zhang L, Timothy KW, Vincent GM, et al: Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome - ECG findings identify genotypes. Circulation 102:2849-2855, 2000
15. Lupoglazoff JM, Denjoy I, Berthet M, et al: T wave morphology on Holter recordings in HERG mutation carriers according to the type of mutations and their localization. Circulation 103:1095-1101, 2001
16. Lupoglazoff JM, Denjoy I, Berthet M, et al: Notched T waves on Holter recordings enhance detection of patients with LQT2 (HERG) mutations. Circulation 103:1095-1101, 2001
17. Schwartz PJ, Priori SG, Spazzolini C, et al: Genotype-phenotype correlation in the long-QT syndrome - gene-specific triggers for life-threatening arrhythmias. Circulation 103:89-95, 2001
18. Clancy CE, Kurokawa J, Tateyama M, et al: K+ channel structure-activity relationships and mechanisms of drug-induced QT prolongation. Ann Rev Pharmacol Toxicol 43:441-461, 2003
19. Wang Q, Curran ME, Splawski I, et al: Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet 12:17-23, 1996
20. Chen QY, Zhang DM, Gingell RL, et al: Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome. Circulation 99:1344-1347, 1999
21. Wei J, Yang ICH, Tapper AR, et al: KCNE1 polymorphism confers risk of drug-induced long QT syndrome by altering kinetic properties of I-Ks potassium channels. Circulation 100:2612, 1999
22. Yang P, Kanki H, Drolet B, et al: Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. Circulation 105:1943-1948, 2002
23. Barhanin J, Lesage F, Guillemare E, et al: K(V)LQT1 and IsK (minK) proteins associate to form the I(Ks) cardiac potassium current. Nature 384:78-80, 1996
24. Sanguinetti MC, Curran ME, Zou A, et al: Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel. Nature 384:80-83, 1996
25. Kurokawa J, Abriel H, Kass RS: Molecular basis of the delayed rectifier current I-Ks in heart. J Mol Cell Cardiol 33:873-882, 2001
26. Neyroud N, Tesson F, Denjoy I, et al: A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat Genet 15:186-189, 1997
27. Bianchi L, Shen ZJ, Dennis AT, et al: Cellular dysfunction of LQT5-minK mutants: Abnormalities of I-Ks, I-Kr and trafficking in long QT syndrome. Hum Mol Genet 8:1499-1507, 1999
28. Bianchi L, Priori SG, Napolitano C, et al: Mechanisms of I-Ks suppression in LQT1 mutants. Am J Physiol 279:H3003-H3011, 2000
29. Donger C, Denjoy I, Berthet M, et al: KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. Circulation 96:2778-2781, 1997
30. Mohammad-Panah R, Demolombe S, Neyroud N, et al: Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias. Am J Hum Genet 64:1015-1023, 1999
31. Sanguinetti MC, Jurkiewicz NK: Two components of cardiac delayed rectifier K+ current. Differential sensitivity to block by class III antiarrhythmic agents. J Gen Physiol 96:195-215, 1990
32. Walsh KB, Arena JP, Kwok WM, et al: Delayed-rectifier potassium channel activity in isolated membrane patches of guinea pig ventricular myocytes. Am J Physiol 260:H1390-H1393, 1991
33. Marx SO, Kurokawa J, Reiken S, et al: Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel. Science 295:496-499, 2002
34. Kurokawa J, Chen L, Kass RS: Requirement of subunit expression for cAMP-mediated regulation of a heart potassium channel. Proc Natl Acad Sci U S A 100:2122-2127, 2003
35. Kass RS, Kurokawa J, Marx SO, et al: Leucine/isoleucine zipper coordination of ion channel macromolecular signaling complexes in the heart: Roles in inherited arrhythmias. Trends Cardiovasc Med 13:52-56, 2003
36. Roden DM, Balser JR: A plethora of mechanisms in the HERG-related long QT syndrome - genetics meets electrophysiology. Cardiovasc Res 44:242-246, 1999
37. Abbott GW, Sesti F, Splawski I, et al: MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. Cell 97:175-187, 1999
38. Zhou Z, Gomg Q, Ye B, et al: Properties of HERG channels stably expressed in HEK 293 cells studied at physiological temperature. Biophys J 74:230-241, 1998
39. Shibasaki T: Conductance and kinetics of delayed rectifier potassium channels in nodal cells of the rabbit heart. J Physiol 387:227-250, 1987
40. McDonald TV, Yu Z, Ming Z, et al: A minK-HERG complex regulates the cardiac potassium current I(Kr). Nature 388:289-292, 1997
41. Sanguinetti MC, Jiang C, Curran ME, et al: A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel. Cell 81:299-307, 1995
42. Weerapura M, Nattel S, Chartier D, et al: A comparison of currents carried by HERG, with and without coexpression of MiRP1, and the native rapid delayed rectifier current. Is MiRP1 the missing link? J Physiol (Lond) 540:15-27, 2002
43. London B, Trudeau MC, Newton KP, et al: Two iosoforms of the mouse ether-a-go-go-related gene coassemble to form channels with properties similar to the rapidly activating component of the cardiac delayed rectifier K+ current. Circ Res 81:870-878, 1997
44. Lees-Miller JP, Kondo C, Wang L, et al: Electrophysiological characterization of an alternatively processed ERG K+ channel in mouse and human hearts. Circ Res 81:719-726, 1997
45. Pond AL, Scheve BK, Benedict AT, et al: Expression of distinct ERG proteins in rat, mouse, and human heart - relation to functional I-Kr channels. J Biol Chem 275:5997-6006, 2000
46. Pond AL, Nerbonne JM: ERG proteins and functional cardiac I-Kr channels in rat, mouse, and human heart. Trends Cardiovasc Med 11:286-294, 2001
47. Vandenberg JI, Walker BD, Campbell TJ: HERG K+ channels: Friend and foe. Trends Pharmacol Sci 22:240-246, 2001
48. Spector PS, Curran ME, Keating MT, et al: Class III antiarrhythmic drugs block HERG, a human cardiac delayed rectifier K+ channel. Open-channel block by methanesulfonanilides. Circ Res 78:499-503, 1996
49. Krafte DS, Volberg WA: Voltage dependence of cardiac delayed rectifier block by methanesulfonamide class III antiarrhythmic agents. J Cardiovasc Pharmacol 23:37-41, 1994
50. Mitcheson JS, Chen J, Lin M, et al: A structural basis for drug-induced long QT syndrome. Proc Natl Acad Sci U S A 97:12329-12333, 2000
51. Mitcheson JS, Chen J, Sanguinetti MC: Trapping of a methanesulfonanilide by closure of the HERG potassium channel activation gate. J Gen Physiol 115: 229-239, 2000
52. Roden DM, Balser JR: A plethora of mechanisms in the HERG-related long-QT syndrome: Genetics meets electrophysiology. Cardiovasc Res 44:242-246, 1999
53. Clancy CE, Rudy Y: Cellular consequences of HERG mutations in the long QT syndrome: Precursors to sudden cardiac death. Cardiovasc Res 50:301-313, 2001
54. Kiehn J, Lacerda AE, Wible B, et al: Molecular physiology and pharmacology of HERG. Single-channel currents and block by dofetilide. Circulation 94: 2572-2579, 1996
55. El-Sherif N, Chinushi M, Caref EB, et al: Electrophysiological mechanism of the characteristic electrocardiographic morphology of torsade de pointes tachyarrhythmias in the long-QT syndrome: Detailed analysis of ventricular tridimensional activation patterns. Circulation 96:4392-4399, 1997
56. Akar FG, Laurita KR, Rosenbaum DS: Cellular basis for dispersion of repolarization underlying reentrant arrhythmias. J Electrocardiol 33:23-31, 2000
57. Akar FG, Yan GX, Antzelevitch C, et al: Unique topographical distribution of m cells underlies reentrant mechanism of torsade de pointes in the long-QT syndrome. Circulation 105:1247-1253, 2002
58. Wang Q, Shen J, Splawski I, et al: SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 80:805-811, 1995
59. Kontis KJ, Rounaghi A, Goldin AL: Sodium channel activation gating is affected by substitutions of voltage sensor positive charges in all four domains. J Gen Physiol 110:391-401, 1997
60. Vassilev PM, Scheuer T, Catterall WA: Identification of an intracellular peptide segment involved in sodium-channel inactivation. Science 241:1658-1661, 1988
61. West JW, Patton DE, Scheuer T, et al: A cluster of hydrophobic amino acid residues required for fast Na(+)-channel inactivation. Proc Natl Acad Sci U S A 89:10910-10914, 1992
62. Mantegazza M, Yu FH, Catterall WA, et al: Role of the C-terminal domain in inactivation of brain and cardiac sodium channels. Proc Natl Acad Sci U S A 98:15348-15353, 2001
63. Cormier JW, Rivolta I, Tateyama M, et al: Secondary structure of the human cardiac Na+ channel C terminus - evidence for a role of helical structures in modulation of channel inactivation. J Biol Chem 277:9233-9241, 2002
64. Clancy CE, Kass RS: Defective cardiac ion channels: From mutations to clinical syndromes. J Clin Invest 110:1075-1077, 2002
65. Clancy CE, Tateyama M, Liu H, et al: Non-equilibrium gating in cardiac Na+ channels: An original mechanism of arrhythmia. Circulation 107:2233-2237, 2003
66. + channel blockade and to increases in heart rate. Implications for gene-specific therapy. Circulation 92:3381-3386, 1995
67. Bennett PB, Yazawa K, Makita N, et al: Molecular mechanism for an inherited cardiac arrhythmia. Nature 376:683-685, 1995
68. Clancy CE, Tateyama M, Kass RS: Insights into the molecular mechanisms of bradycardia-triggered arrhythmias in long QT-3 syndrome. J Clin Invest 110:1251-1262, 2002
69. Schott JJ, Charpentier F, Peltier S, et al: Mapping of a gene for long QT syndrome to chromosome 4q25-27. Am J Human Genet 57:1114-1122, 1995
70. Mohler PJ, Schott JJ, Gramolini AO, et al: Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature 421:634-639, 2003
71. Splawski I, Tristani-Firouzi M, Lehmann MH, et al: Mutations in the hminK gene cause long QT syndrome and suppress IKs function. Nat Genet 17: 338-340, 1997
72. Splawski I, Timothy KW, Vincent GM, et al: Molecular basis of the long-QT syndrome associated with deafness. N Engl J Med 336:1562-1567, 1997
73. Curran ME, Splawski I, Timothy KW, et al: A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell 80:795-803, 1995
74. Sesti F, Abbott GW, Wei J, et al: A common polymorphism associated with antibiotic-induced cardiac arrhythmia. Proc Natl Acad Sci U S A 97:10613-10618, 2000
75. Yu H, Wu J, Potapova I, et al: MinK-related peptide 1: A β subunit for the HCN ion channel subunit family enhances expression and speeds activation. Circ Res 88:84e-87e, 2001
76. Abbott GW, Goldstein SAN: Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism. FASEB J 16:390-400, 2002
77. Plaster NM, Tawil R, Tristani-Firouzi M, et al: Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 105:511-519, 2001
78. Wang DW, Makita N, Yang P, et al: Enhanced Na channel intermediate inactivation in idiopathic ventricular fibrillation. Biophys J 80:22a-a, 2001
79. Grant AO, Carboni MP, Neplioueva V, et al: Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation. J Clin Invest 110:1201-1209, 2002
80. Wang DW, Makita N, Kitabatake A, et al: Enhanced Na+ channel intermediate inactivation in Brugada syndrome. Circ Res 87:E37-E43, 2000
81. Dumaine R, Towbin JA, Brugada P, et al: Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. Circ Res 85:803-809, 1999
82. Rivolta I, Abriel H, Tateyama M, et al: Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes. J Biol Chem 276:30623-30630, 2001
83. Veldkamp MW, Viswanathan PC, Bezzina C, et al: Two distinct congenital arrhythmias evoked by a multidysfunctional Na+ channel. Circ Res 86:E91-E97, 2000
84. Clancy CE, Rudy Y: Na+ channel mutation that causes both Brugada and long-QT syndrome phenotypes - a simulation study of mechanism. Circulation 105:1208-1213, 2002
85. Shaw RM, Rudy Y: Ionic mechanisms of propagation in cardiac tissue - roles of the sodium and L-type calcium currents during reduced excitability and decreased gap junction coupling. Circ Res 81: 727-741, 1997
86. Rohr S, Kucera JP, Kleber AG: Slow conduction in cardiac tissue, I - effects of a reduction of excitability versus a reduction of electrical coupling on microconduction. Circ Res 83:781-794, 1998
87. Kyndt F, Potet F, Chevallier JC, et al: A novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in the same family. Circulation 104:3081, 2001
88. Liu DW, Gintant GA, Antzelevitch C: Ionic bases for electrophysiological distinctions among epicardial, midmyocardial, and endocardial myocytes from the free wall of the canine left ventricle. Circ Res 72:671-687, 1993
89. Yan GX, Antzelevitch C: Cellular basis for the Brugada syndrome and other mechanisms of arrhythmogenesis associated with ST-segment elevation. Circulation 100:1660-1666, 1999
90. Clancy CE, Rudy Y: Linking a genetic defect to its cellular phenotype in a cardiac arrhythmia. Nature 400:566-569, 1999
91. Shirai N, Makita N, Sasaki K, et al: A mutant cardiac sodium channel with multiple biophysical defects associated with overlapping clinical features of Brugada syndrome and cardiac conduction disease. Cardiovasc Res 53:348-354, 2002
92. Kyndt F, Probst V, Potet F, et al: Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. Circulation 104:3081-3086, 2001
93. Hancox JC, Patel KCR, Jones JV: Antiarrhythmics - from cell to clinic: Past, present, and future. Heart 84:14-24, 2000
94. Hancox JC, Witchel HJ: Psychotropic drugs, HERG, and the heart. Lancet 356:428, 2000
95. Carmeliet E, Fozzard HA, Hiraoka M, et al: New approaches to antiarrhythmic therapy, part I - emerging therapeutic applications of the cell biology of cardiac arrhythmias. Circulation 104:2865-2873, 2001
96. Napolitano C, Schwartz PJ, Brown AM, et al: Evidence for a cardiac ion channel mutation underlying drug-induced QT prolongation and life-threatening arrhythmias. J Cardiovasc Electrophysiol 11:691-696, 2000
97. Priori SG, Napolitano C: Genetic defects of cardiac ion channels. The hidden substrate for torsades de pointes. Cardiovasc Drugs Ther 16:89-92, 2002
98. Viswanathan PC, Rudy Y: Cellular arrhythmogenic effects of congenital and acquired long-QT syndrome in. Circulation 101:1192-1198, 2000
99. Witchel HJ, Hancox JC: Familial and acquired long QT syndrome and the cardiac rapid delayed rectifier potassium current. Clin Exp Pharmacol Physiol 27: 753-766, 2000
100. Witchel HJ, Hancox JC, Nutt DJ: Psychotropic drugs, cardiac arrhythmia, and sudden death. J Clin Psychopharmacol 23:58-77, 2003
101. Priori SG, Napolitano C, Schwartz PJ, et al: The elusive link between LQT3 and Brugada syndrome - the role of flecainide challenge. Circulation 102:945-947, 2000
102. Benhorin J, Moss AJ, Bak M, et al: Variable expression of long QT syndrome among gene carriers from families with five different HERG mutations. Ann Noninvasive Electrocardiol 7:40-46, 2002
103. Keating MT, Sanguinetti MC: Molecular and cellular mechanisms of cardiac arrhythmias. Cell 104:569-580, 2001
104. Task Force of the Working Group on Arrhythmias of the European Society of Cardiology: The Sicilian gambit. A new approach to the classification of antiarrhythmic drugs based on their actions on arrhythmogenic mechanisms. Circulation 84:1831-1851, 1991
105. Roden DM, Lazzara R, Rosen M, et al: Multiple mechanisms in the long-QT syndrome. Current knowledge, gaps, and future directions. The SADS Foundation Task Force on LQTS. Circulation 94: 1996-2012, 1996