Long QT syndrome: Beyond the causal mutation

Journal of Physiology

Volumn 591, Issue 17, 2013, Pages 4125-4139

  Amin, Ahmad S ^a   Pinto, Yigal M ^a   Wilde, Arthur A M ^a,b  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b Princess Al Jawhara Al Brahim Centre of Excellence in Research of Hereditary Disorders   (South Africa)

Author keywords

[No Author keywords available]

Indexed keywords

ANKYRIN; ANKYRIN B; CALCIUM CHANNEL CAV1.2 CHANNEL; CALMODULIN; CAVEOLIN 3; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR2.1; ION CHANNEL; POTASSIUM CHANNEL KCNE1; POTASSIUM CHANNEL KCNE2; POTASSIUM CHANNEL KIR3.4 CHANNEL; POTASSIUM CHANNEL KV11.1 CHANNEL; POTASSIUM CHANNEL KV7.1 CHANNEL; PROTEIN YOTIAO; SODIUM CHANNEL NAV1.5; SYNTROPHIN; UNCLASSIFIED DRUG; VOLTAGE GATED SODIUM CHANNEL BETA 4 SUBUNIT;

AGE; AKAP9 GENE; ANK2 GENE; AUTONOMIC NERVOUS SYSTEM; CACNA1C GENE; CALM GENE; CAV3 GENE; DISEASE SEVERITY; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; HEART ARRHYTHMIA; HEART REPOLARIZATION; HEREDITY; HETEROZYGOSITY; HUMAN; KCNE1 GENE; KCNE2 GENE; KCNH2 GENE; KCNJ2 GENE; KCNJ5 GENE; KCNQ1 GENE; LONG QT SYNDROME; NONHUMAN; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; QT INTERVAL; REVIEW; RISK ASSESSMENT; SCN4B GENE; SCN5A GENE; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM; SNTA1 GENE; SUDDEN DEATH; ACTION POTENTIAL; ANIMAL; GENETICS; GENOTYPE; GENOTYPE ENVIRONMENT INTERACTION; METABOLISM; PATHOPHYSIOLOGY;

ACTION POTENTIALS; ANIMALS; GENE-ENVIRONMENT INTERACTION; GENOTYPE; HUMANS; LONG QT SYNDROME;

EID: 84883270737     PISSN: 00223751     EISSN: 14697793     Source Type: Journal    
DOI: 10.1113/jphysiol.2013.254920     Document Type: Review

References (89)

1. Kr potassium channels with HERG and is associated with cardiac arrhythmia. Cell 97, 175-187.
2. Algra A, Tijssen JG, Roelandt JR, Pool J & Lubsen J (1991). QTc prolongation measured by standard 12-lead electrocardiography is an independent risk factor for sudden death due to cardiac arrest. Circulation 83, 1888-1894.
3. Amin AS, Asghari-Roodsari A & Tan HL (2010a). Cardiac sodium channelopathies. Pflugers Arch 460, 223-237.
4. v7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner. Eur Heart J 33, 714-723.
5. Amin AS, Herfst LJ, Delisle BP, Klemens CA, Rook MB, Bezzina CR, Underkofler HA, Holzem KM, Ruijter JM, Tan HL, January CT & Wilde AA (2008). Fever-induced QTc prolongation and ventricular arrhythmias in individuals with type 2 congenital long QT syndrome. J Clin Invest 118, 2552-2561.
6. Amin AS, Tan HL & Wilde AA (2010b). Cardiac ion channels in health and disease. Heart Rhythm 7, 117-126.
7. Arking DE, Pfeufer A, Post W, Kao WH, Newton-Cheh C, Ikeda M, West K, Kashuk C, Akyol M, Perz S, Jalilzadeh S, Illig T, Gieger C, Guo CY, Larson MG, Wichmann HE, Marbán E, O'Donnell CJ, Hirschhorn JN, Kääb S, Spooner PM, Meitinger T & Chakravarti A (2006). A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization. Nat Genet 38, 644-651.
8. Bai CX, Kurokawa J, Tamagawa M, Nakaya H & Furukawa T (2005). Nontranscriptional regulation of cardiac repolarization currents by testosterone. Circulation 112, 1701-1710.
9. KS cardiac potassium current. Nature 384, 78-80.
10. Bezzina CR, Verkerk AO, Busjahn A, Jeron A, Erdmann J, Koopmann TT, Bhuiyan ZA, Wilders R, Mannens MM, Tan HL, Luft FC, Schunkert H & Wilde AA (2003). A common polymorphism in KCNH2 (HERG) hastens cardiac repolarization. Cardiovasc Res 59, 27-36.
11. Borel C & Antonarakis SE (2008). Functional genetic variation of human miRNAs and phenotypic consequences. Mamm Genome 19, 503-509.
12. Brink PA, Crotti L, Corfield V, Goosen A, Durrheim G, Hedley P, Heradien M, Geldenhuys G, Vanoli E, Bacchini S, Spazzolini C, Lundquist AL, Roden DM, George AL Jr & Schwartz PJ (2005). Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population. Circulation 112, 2602-2610.
13. Buber J, Mathew J, Moss AJ, Hall WJ, Barsheshet A, McNitt S, Robinson JL, Zareba W, Ackerman MJ, Kaufman ES, Luria D, Eldar M, Towbin JA, Vincent M & Goldenberg I (2011). Risk of recurrent cardiac events after onset of menopause in women with congenital long-QT syndrome types 1 and 2. Circulation 123, 2784-2791.
14. Burashnikov A, Shimizu W & Antzelevitch C (2008). Fever accentuates transmural dispersion of repolarization and facilitates development of early afterdepolarizations and torsade de pointes under long-QT conditions. Circ Arrhythm Electrophysiol 1, 202-208.
15. Chang KC, Barth AS, Sasano T, Kizana E, Kashiwakura Y, Zhang Y, Foster DB & Marban E (2008). CAPON modulates cardiac repolarization via neuronal nitric oxide synthase signaling in the heart. Proc Natl Acad Sci U S A 105, 4477-4482.
16. Chen L, Marquardt ML, Tester DJ, Sampson KJ, Ackerman MJ & Kass RS (2007). Mutation of an A-kinase-anchoring protein causes long-QT syndrome. Proc Natl Acad Sci U S A 104, 20990-20995.
17. Chen K & Rajewsky N (2006). Natural selection on human microRNA binding sites inferred from SNP data. Nat Genet 38, 1452-1456.
18. Choy AM, Lang CC, Chomsky DM, Rayos GH, Wilson JR & Roden DM (1997). Normalization of acquired QT prolongation in humans by intravenous potassium. Circulation 96, 2149-2154.
19. Compton SJ, Lux RL, Ramsay MR, Strelich KR, Sanguinetti MC, Green LS, Keating MT & Mason JW (1996). Genetically-defined therapy of inherited long-QT syndrome: correction of abnormal repolarization by potassium. Circulation 94, 1018-1022.
20. Crotti L, Johnson CN, Graf E, De Ferrari GM, Cuneo BF, Ovadia M, Papagiannis J, Feldkamp MD, Rathi SG, Kunic JD, Pedrazzini M, Wieland T, Lichtner P, Beckmann BM, Clark T, Shaffer C, Benson DW, Kääb S, Meitinger T, Strom TM, Chazin WJ, Schwartz PJ & George AL Jr (2013). Calmodulin mutations associated with recurrent cardiac arrest in infants. Circulation 127, 1009-1017.
21. Crotti L, Lundquist AL, Insolia R, Pedrazzini M, Ferrandi C, De Ferrari GM, Vicentini A, Yang P, Roden DM, George AL Jr & Schwartz PJ (2005). KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome. Circulation 112, 1251-1258.
22. Crotti L, Monti MC, Insolia R, Peljto A, Goosen A, Brink PA, Greenberg DA, Schwartz PJ & George AL Jr (2009). NOS1AP is a genetic modifier of the long-QT syndrome. Circulation 120, 1657-1663.
23. Curran ME, Splawski I, Timothy KW, Vincent GM, Green ED & Keating MT (1995). A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell 80, 795-803.
24. Gaborit N, Varro A, Le Bouter S, Szuts V, Escande D, Nattel S & Demolombe S (2010). Gender-related differences in ion-channel and transporter subunit expression in non-diseased human hearts. J Mol Cell Cardiol 49, 639-646.
25. Gouas L, Nicaud V, Berthet M, Forhan A, Tiret L, Balkau B & Guicheney P; D.E.S.I.R. Study Group (2005). Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population. Eur J Hum Genet 13, 1213-1222.
26. Huntzinger E & Izaurralde E (2011). Gene silencing by microRNAs: contributions of translational repression and mRNA decay. Nat Rev Genet 12, 99-110.
27. James AF, Arberry LA & Hancox JC (2004). Gender-related differences in ventricular myocyte repolarization in the guinea pig. Basic Res Cardiol 99, 183-192.
28. Jamshidi Y, Nolte IM, Dalageorgou C, Zheng D, Johnson T, Bastiaenen R, Ruddy S, Talbott D, Norris KJ, Snieder H, George AL, Marshall V, Shakir S, Kannankeril PJ, Munroe PB, Camm AJ, Jeffery S, Roden DM & Behr ER (2012). Common variation in the NOS1AP gene is associated with drug-induced QT prolongation and ventricular arrhythmia. J Am Coll Cardiol 60, 841-850.
29. Kannankeril P, Roden DM & Darbar D (2010). Drug-induced long QT syndrome. Pharmacol Rev 62, 760-781.
30. Kapplinger JD, Tester DJ, Salisbury BA, Carr JL, Harris-Kerr C, Pollevick GD, Wilde AA & Ackerman MJ (2009). Spectrum and prevalence of mutations from the first 2, 500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm 6, 1297-1303.
31. Khositseth A, Tester DJ, Will ML, Bell CM & Ackerman MJ (2004). Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome. Heart Rhythm 1, 60-64.
32. Kühlkamp V, Mewis C, Bosch R & Seipel L (2003). Delayed sodium channel inactivation mimics long QT syndrome 3. J Cardiovasc Pharmacol 42, 113-117.
33. Kr channels and drug-induced prolongation of cardiac repolarization. J Physiol 586, 2961-2973.
34. Kuryshev YA, Wang L, Wible BA, Wan X & Ficker E (2006). Antimony-based antileishmanial compounds prolong the cardiac action potential by an increase in cardiac calcium currents. Mol Pharmacol 69, 1216-1225.
35. Lahtinen AM, Marjamaa A, Swan H & Kontula K (2011). KCNE1 D85N polymorphism - a sex-specific modifier in type 1 long QT syndrome BMC Med Genet 12, 11.
36. Laitinen P, Fodstad H, Piippo K, Swan H, Toivonen L, Viitasalo M, Kaprio J & Kontula K (2000). Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects. Hum Mutat 15, 580-581.
37. Liu XK, Katchman A, Drici MD, Ebert SN, Ducic I, Morad M & Woosley RL (1998). Gender difference in the cycle length-dependent QT and potassium currents in rabbits. J Pharmacol Exp Ther 285, 672-679.
38. Locati EH, Zareba W, Moss AJ, Schwartz PJ, Vincent GM, Lehmann MH, Towbin JA, Priori SG, Napolitano C, Robinson JL, Andrews M, Timothy K & Hall WJ (1998) Age- and sex-related differences in clinical manifestations in patients with congenital long-QT syndrome: findings from the International LQTS Registry. Circulation 97, 2237-2244.
39. McAllister RE & Noble D (1966). The time and voltage dependence of the slow outward current in cardiac Purkinje fibres. J Physiol 186, 632-662.
40. Kr. Nature 388, 289-292.
41. Marjamaa A, Newton-Cheh C, Porthan K, Reunanen A, Lahermo P, Väänänen H, Jula A, Karanko H, Swan H, Toivonen L, Nieminen MS, Viitasalo M, Peltonen L, Oikarinen L, Palotie A, Kontula K & Salomaa V (2009). Common candidate gene variants are associated with QT interval duration in the general population. J Intern Med 265, 448-458.
42. Marroni F, Pfeufer A, Aulchenko YS, Franklin CS, Isaacs A, Pichler I, Wild SH, Oostra BA, Wright AF, Campbell H, Witteman JC, Kääb S, Hicks AA, Gyllensten U, Rudan I, Meitinger T, Pattaro C, van Duijn CM, Wilson JF & Pramstaller PP; EUROSPAN Consortium (2009). A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project. Circ Cardiovasc Genet 2, 322-328.
43. Medeiros-Domingo A, Kaku T, Tester DJ, Iturralde-Torres P, Itty A, Ye B, Valdivia C, Ueda K, Canizales-Quinteros S, Tusié-Luna MT, Makielski JC & Ackerman MJ (2007). SCN4B-encoded sodium channel β4 subunit in congenital long-QT syndrome. Circulation 116, 134-142.
44. Mohler PJ, Schott JJ, Gramolini AO, Dilly KW, Guatimosim S, duBell WH, Song LS, Haurogné K, Kyndt F, Ali ME, Rogers TB, Lederer WJ, Escande D, Le Marec H & Bennett V (2003). Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature 421, 634-639.
45. Morton V & Torgerson DJ (2003). Effect of regression to the mean on decision making in health care. BMJ 326, 1083-1084.
46. Nakamura H, Kurokawa J, Bai CX, Asada K, Xu J, Oren RV, Zhu ZI, Clancy CE, Isobe M & Furukawa T (2007). Progesterone regulates cardiac repolarization through a nongenomic pathway: an in vitro patch-clamp and computational modelling study. Circulation 116, 2913-2922.
47. Newton-Cheh C, Eijgelsheim M, Rice KM, de Bakker PI, Yin X, Estrada K, Bis JC, Marciante K, Rivadeneira F, Noseworthy PA, Sotoodehnia N, Smith NL, Rotter JI, Kors JA, Witteman JC, Hofman A, Heckbert SR, O'Donnell CJ, Uitterlinden AG, Psaty BM, Lumley T, Larson MG & Stricker BH (2009). Common variants at ten loci influence QT interval duration in the QTGEN Study. Nat Genet 41, 399-406.
48. Newton-Cheh C, Guo CY, Larson MG, Musone SL, Surti A, Camargo AL, Drake JA, Benjamin EJ, Levy D, D'Agostino RB Sr, Hirschhorn JN & O'Donnell CJ (2007). Common genetic variation in KCNH2 is associated with QT interval duration: the Framingham Heart Study. Circulation 116, 1128-1136.
49. Nishio Y, Makiyama T, Itoh H, Sakaguchi T, Ohno S, Gong YZ, Yamamoto S, Ozawa T, Ding WG, Toyoda F, Kawamura M, Akao M, Matsuura H, Kimura T, Kita T & Horie M (2009). D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome. J Am Coll Cardiol 54, 812-819.
50. Noda T, Takaki H, Kurita T, Suyama K, Nagaya N, Taguchi A, Aihara N, Kamakura S, Sunagawa K, Nakamura K, Ohe T, Horie M, Napolitano C, Towbin JA, Priori SG & Shimizu W (2002). Gene-specific response of dynamic ventricular repolarization to sympathetic stimulation in LQT1, LQT2 and LQT3 forms of congenital long QT syndrome. Eur Heart J 23, 975-983.
51. Nof E, Barajas-Martinez H, Eldar M, Urrutia J, Caceres G, Rosenfeld G, Bar-Lev D, Feinberg M, Burashnikov E, Casis O, Hu D, Glikson M & Antzelevitch C (2011). LQT5 masquerading as LQT2: a dominant negative effect of KCNE1-D85N rare polymorphism on KCNH2 current. Europace 13, 1478-1483.
52. Ohno S, Zankov DP, Yoshida H, Tsuji K, Makiyama T, Itoh H, Akao M, Hancox JC, Kita T & Horie M (2007). N- and C-terminal KCNE1 mutations cause distinct phenotypes of long QT syndrome. Heart Rhythm 4, 332-340.
53. Pfeufer A, Jalilzadeh S, Perz S, Mueller JC, Hinterseer M, Illig T, Akyol M, Huth C, Schöpfer-Wendels A, Kuch B, Steinbeck G, Holle R, Näbauer M, Wichmann HE, Meitinger T & Kääb S (2005). Common variants in myocardial ion channel genes modify the QT interval in the general population: results from the KORA study. Circ Res 96, 693-701.
54. Pfeufer A, Sanna S, Arking DE, Müller M, Gateva V, Fuchsberger C, Ehret GB, Orrú M, Pattaro C, Köttgen A, Perz S, Usala G, Barbalic M, Li M, Pütz B, Scuteri A, Prineas RJ, Sinner MF, Gieger C, Najjar SS, Kao WH, Mühleisen TW, Dei M, Happle C, Möhlenkamp S, Crisponi L, Erbel R, Jöckel KH, Naitza S, Steinbeck G, Marroni F, Hicks AA, Lakatta E, Müller-Myhsok B, Pramstaller PP, Wichmann HE, Schlessinger D, Boerwinkle E, Meitinger T, Uda M, Coresh J, Kääb S, Abecasis GR & Chakravarti A (2009). Common variants at ten loci modulate the QT interval duration in the QTSCD Study. Nat Genet 41, 407-414.
55. Plaster NM, Tawil R, Tristani-Firouzi M, Canún S, Bendahhou S, Tsunoda A, Donaldson MR, Iannaccone ST, Brunt E, Barohn R, Clark J, Deymeer F, George AL Jr, Fish FA, Hahn A, Nitu A, Ozdemir C, Serdaroglu P, Subramony SH, Wolfe G, Fu YH & Ptácek LJ (2001). Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 105, 511-519.
56. Priori SG, Napolitano C & Schwartz PJ (1999). Low penetrance in the long-QT syndrome: clinical impact. Circulation 99, 529-533.
57. + channel block and disruption of protein trafficking by fluoxetine and norfluoxetine. Br J Pharmacol 149, 481-489.
58. Rautaharju PM, Surawicz B, Gettes LS, Bailey JJ, Childers R, Deal BJ, Gorgels A, Hancock EW, Josephson M, Kligfield P, Kors JA, Macfarlane P, Mason JW, Mirvis DM, Okin P, Pahlm O, van Herpen G, Wagner GS & Wellens H; American Heart Association Electrocardiography and Arrhythmias Committee, Council on Clinical Cardiology; American College of Cardiology Foundation; Heart Rhythm Society (2009). AHA/ACCF/HRS recommendations for the standardization and interpretation of the electrocardiogram: part IV: the ST segment, T and U waves, and the QT interval: a scientific statement from the American Heart Association Electrocardiography and Arrhythmias Committee, Council on Clinical Cardiology; the American College of Cardiology Foundation; and the Heart Rhythm Society. Endorsed by the International Society for Computerized Electrocardiology. J Am Coll Cardiol 53, 982-991.
59. Romano C, Gemme G & Pongiglione R (1963). Aritmie cardiache rare dell'età pediatrica. Clin Pediatr (Bologna) 45, 656-683.
60. Sabir IN, Killeen MJ, Goddard CA, Thomas G, Gray S, Grace AA & Huang CL (2007). Transient alterations in transmural repolarization gradients and arrhythmogenicity in hypokalaemic Langendorff-perfused murine hearts. J Physiol 581, 277-289.
61. Sakaguchi T, Shimizu W, Itoh H, Noda T, Miyamoto Y, Nagaoka I, Oka Y, Ashihara T, Ito M, Tsuji K, Ohno S, Makiyama T, Kamakura S & Horie M (2008). Age- and genotype-specific triggers for life-threatening arrhythmia in the genotyped long QT syndrome. J Cardiovasc Electrophysiol 19, 794-799.
62. Ks potassium channel. Nature 384, 80-83.
63. Kr potassium channel. Cell 81, 299-307.
64. + currents. Pflugers Arch 420, 180-186.
65. Sauer AJ & Newton-Cheh C (2012). Clinical and genetic determinants of torsade de pointes risk. Circulation 125, 1684-1694.
66. Schwartz PJ, Priori SG & Napolitano C (2003). How really rare are rare diseases?: The intriguing case of independent compound mutations in the long QT syndrome. J Cardiovasc Electrophysiol 14, 1120-1121.
67. Schwartz PJ, Priori SG, Spazzolini C, Moss AJ, Vincent GM, Napolitano C, Denjoy I, Guicheney P, Breithardt G, Keating MT, Towbin JA, Beggs AH, Brink P, Wilde AA, Toivonen L, Zareba W, Robinson JL, Timothy KW, Corfield V, Wattanasirichaigoon D, Corbett C, Haverkamp W, Schulze-Bahr E, Lehmann MH, Schwartz K, Coumel P & Bloise R (2001). Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation 103, 89-95.
68. Schwartz PJ, Vanoli E, Crotti L, Spazzolini C, Ferrandi C, Goosen A, Hedley P, Heradien M, Bacchini S, Turco A, La Rovere MT, Bartoli A, George AL Jr & Brink PA (2008). Neural control of heart rate is an arrhythmia risk modifier in long QT syndrome. J Am Coll Cardiol 51, 920-929.
69. Seth R, Moss AJ, McNitt S, Zareba W, Andrews ML, Qi M, Robinson JL, Goldenberg I, Ackerman MJ, Benhorin J, Kaufman ES, Locati EH, Napolitano C, Priori SG, Schwartz PJ, Towbin JA, Vincent GM & Zhang L (2007). Long QT syndrome and pregnancy. J Am Coll Cardiol 49, 1092-1098.
70. Shimizu W & Antzelevitch C (1998). Cellular basis for the ECG features of the LQT1 form of the long-QT syndrome: effects of β-adrenergic agonists and antagonists and sodium channel blockers on transmural dispersion of repolarization and torsade de pointes. Circulation 98, 2314-2322.
71. Shimizu W & Antzelevitch C (2000). Differential effects of beta-adrenergic agonists and antagonists in LQT1, LQT2 and LQT3 models of the long QT syndrome. J Am Coll Cardiol 35, 778-786.
72. Shimizu W, Moss AJ, Wilde AA, Towbin JA, Ackerman MJ, January CT, Tester DJ, Zareba W, Robinson JL, Qi M, Vincent GM, Kaufman ES, Hofman N, Noda T, Kamakura S, Miyamoto Y, Shah S, Amin V, Goldenberg I, Andrews ML & McNitt S (2009). Genotype-phenotype aspects of type 2 long QT syndrome. J Am Coll Cardiol 54, 2052-2062.
73. Shimizu W, Noda T, Takaki H, Kurita T, Nagaya N, Satomi K, Suyama K, Aihara N, Kamakura S, Sunagawa K, Echigo S, Nakamura K, Ohe T, Towbin JA, Napolitano C & Priori SG (2003). Epinephrine unmasks latent mutation carriers with LQT1 form of congenital long QT syndrome. J Am Coll Cardiol 41, 633-642.
74. V1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 119, 19-31.
75. Taggart NW, Haglund CM, Tester DJ & Ackerman MJ (2007). Diagnostic miscues in congenital long-QT syndrome. Circulation 115, 2613-2620.
76. Tan HL, Bardai A, Shimizu W, Moss AJ, Schulze-Bahr E, Noda T & Wilde AA (2006). Genotype-specific onset of arrhythmias in congenital long-QT syndrome: possible therapy implications. Circulation 114, 2096-2103.
77. Tanabe S, Hata T & Hiraoka M (1999). Effects of estrogen on action potential and membrane currents in guinea pig ventricular myocytes. Am J Physiol Heart Circ Physiol 277, H826-H833.
78. Tester DJ, Will ML, Haglund CM & Ackerman MJ (2005). Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm 2, 507-517.
79. Tomás M, Napolitano C, De Giuli L, Bloise R, Subirana I, Malovini A, Bellazzi R, Arking DE, Marban E, Chakravarti A, Spooner PM & Priori SG (2010). Polymorphisms in the NOS1AP gene modulate QT interval duration and risk of arrhythmias in the long QT syndrome. J Am Coll Cardiol 55, 2745-2752.
80. Ueda K, Valdivia C, Medeiros-Domingo A, Tester DJ, Vatta M, Farrugia G, Ackerman MJ & Makielski JC (2008). Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. Proc Natl Acad Sci U S A 105, 9355-9360.
81. Vatta M, Ackerman MJ, Ye B, Makielski JC, Ughanze EE, Taylor EW, Tester DJ, Balijepalli RC, Foell JD, Li Z, Kamp TJ & Towbin JA (2006). Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. Circulation 114, 2104-2112.
82. Viadero MT, Rubin E, Amigo T & Gonzalez-Lamuno D (2011). Three generations of hereditary long-QT syndrome with complete penetrance caused by the p.G316E KCNQ1 mutation. Pediatr Cardiol 32, 102-104.
83. Vincent GM, Timothy KW, Leppert M & Keating M (1992). The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT syndrome. N Engl J Med 327, 846-852.
84. Wang Q, Curran ME, Splawski I, Burn TC, Millholland JM, VanRaay TJ, Shen J, Timothy KW, Vincent GM, de Jager T, Schwartz PJ, Toubin JA, Moss AJ, Atkinson DL, Landes GM, Connors TD & Keating MT (1996). Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet 12, 17-23.
85. Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson JL, Moss AJ, Towbin JA & Keating MT (1995). SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 80, 805-811.
86. Ward OC (1964). A new familial cardiac syndrome in children. J Ir Med Assoc 54, 103-106.
87. Westenskow P, Splawski I, Timothy KW, Keating MT & Sanguinetti MC (2004). Compound mutations: a common cause of severe long-QT syndrome. Circulation 109, 1834-1841.
88. Yang Y, Yang Y, Liang B, Liu J, Li J, Grunnet M, Olesen SP, Rasmussen HB, Ellinor PT, Gao L, Lin X, Li L, Wang L, Xiao J, Liu Y, Liu Y, Zhang S, Liang D, Peng L, Jespersen T & Chen YH (2010). Identification of a Kir3.4 mutation in congenital long QT syndrome. Am J Hum Genet 86, 872-880.
89. + currents in the heart. Am J Physiol Heart Circ Physiol 285, H1641-H1649.