Long and Short QT Syndromes

Cardiac Electrophysiology: From Cell to Bedside: Sixth Edition

Volumn , Issue , 2014, Pages 935-946

  Schwartz, Peter J ^a,b,c,d,e   Crotti, Lia ^a,f,g  

^a UNIVERSITY OF PAVIA   (Italy)

^b Mangiagalli e Regina Elena   (Italy)

^c Cardiovascular Genetics Laboratory   (Italy)

^d UNIVERSITY OF CAPE TOWN   (South Africa)

^e KING SAUD UNIVERSITY   (Saudi Arabia)

^f FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^g INSTITUTE OF EPIDEMIOLOGY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84921638316     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-1-4557-2856-5.00093-5     Document Type: Chapter

References (75)

1. Schwartz PJ, Periti M, Malliani A The long Q-T syndrome. Am Heart J 1975, 89:378-390.
2. Schwartz PJ, Crotti L, Insolia R Long QT syndrome: from genetics to management. Circ Arrhythm Electrophysiol 2012, 5:868-877.
3. Bennett PB, Yazawa K, Makita N, et al. Molecular mechanism for an inherited cardiac arrhythmia. Nature 1995, 376:683-685.
4. v1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 2004, 119:19-31.
5. Schwartz PJ, Stramba-Badiale M, Crotti L, et al. Prevalence of the congenital long-QT syndrome. Circulation 2009, 120:1761-1767.
6. Priori SG, Schwartz PJ, Napolitano C, et al. Risk stratification in the long-QT syndrome. N Engl J Med 2003, 348:1866-1874.
7. + channel blockade and to increases in heart rate. Implications for gene-specific therapy. Circulation 1995, 92:3381-3386.
8. Schwartz PJ, Priori SG, Spazzolini C, et al. Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation 2001, 103:89-95.
9. Buber J, Mathew J, Moss AJ, et al. Risk of recurrent cardiac events after onset of menopause in women with congenital long-QT syndrome types 1 and 2. Circulation 2011, 123:2784-2791.
10. Schwartz PJ, Crotti L Long QT and short QT syndromes. Cardiac electrophysiology: from cell to bedside 2009, 731-744. Elsevier-Saunders, Philadelphia. ed 5. D.P. Zipes, J. Jalife (Eds.).
11. Brink PA, Crotti L, Corfield V, et al. Phenotypic variability and unusual clinical severity of congenital Long QT Syndrome in a founder population. Circulation 2005, 112:2602-2610.
12. Schwartz PJ, Vanoli E, Crotti L, et al. Neural control of heart rate is an arrhythmia risk modifier in long QT syndrome. J Am Coll Cardiol 2008, 51:920-929.
13. Crotti L, Spazzolini C, Porretta AP, et al. Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the Long QT Syndrome. J Am Coll Cardiol 2012, 60:2515-2524.
14. Haugaa KH, Edvardsen T, Leren TP, et al. Left ventricular mechanical dispersion by tissue Doppler imaging: a novel approach for identifying high-risk individuals with long QT syndrome. Eur Heart J 2009, 30:330-337.
15. De Ferrari GM, Schwartz PJ Long QT syndrome, a purely electrical disease? Not anymore. Eur Heart J 2009, 30:253-255.
16. Schwartz PJ, Spazzolini C, Crotti L, et al. The Jervell and Lange-Nielsen Syndrome. Natural history, molecular basis, and clinical outcome. Circulation 2006, 113:783-790.
17. Crotti L, Johnson CN, Graf E, et al. Calmodulin mutations associated with recurrent cardiac arrest in infants. Circulation 2013, 127:1009-1017.
18. Schwartz PJ, Crotti L QTc behavior during exercise and genetic testing for the long-QT syndrome. Circulation 2011, 124:2181-2184.
19. Schwartz PJ Sudden cardiac death, founder populations and mushrooms. What is the link with gold mines and modifier genes?. Heart Rhythm 2011, 8:548-550.
20. Moss AJ, Zareba W, Kaufman ES, et al. Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. Circulation 2002, 105:794-799.
21. Moss AJ, Shimizu W, Wilde AA, et al. Clinical 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.
22. Crotti L, Spazzolini C, Schwartz PJ, et al. The common Long QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: toward a mutation-specific risk stratification. Circulation 2007, 116:2366-2375.
23. Makita N, Behr E, Shimizu W, et al. The E1784K mutation in SCN5A gene is associated with mixed clinical phenotype of type 3 long QT syndrome. J Clin Invest 2008, 118:2219-2229.
24. Barsheshet A, Peterson DR, Moss AJ, et al. Genotype-specific QT correction for heart rate and the risk of life-threatening cardiac events in adolescents with congenital long-QT syndrome. Heart Rhythm 2011, 8:1207-1213.
25. Costa J, Lopes CM, Barsheshet A, et al. Combined assessment of sex- and mutation-specific information for risk stratification in type 1 long QT syndrome. Heart Rhythm 2012, 9:892-898.
26. Crotti L, Lundquist AL, Insolia R, et al. KCNH2-K897T is a genetic modifier of latent congenital long QT syndrome. Circulation 2005, 112:1251-1258.
27. Nof E, Cordeiro JM, Pérez GJ, et al. A common single nucleotide polymorphism can exacerbate long-QT type 2 syndrome leading to sudden infant death. Circ Cardiovasc Genet 2010, 3:199-206.
28. Newton-Cheh C, Eijgelsheim M, Rice KM, et al. Common variants at ten loci influence QT interval duration in the QTGEN Study. Nat Genet 2009, 41:399-406.
29. Pfeufer A, Sanna S, Arking DE, et al. Common variants at ten loci modulate the QT interval duration in the QTSCD Study. Nat Genet 2009, 41:407-414.
30. Crotti L, Monti MC, Insolia R, et al. NOS1AP is a genetic modifier of the long-QT syndrome. Circulation 2009, 120:1657-1663.
31. Tomas M, Napolitano C, De Giuli L, et al. Polymorphisms in the NOS1AP gene modulate QT interval duration and risk of arrhythmias in the long QT syndrome. J Am Coll Cardiol 2010, 55:2745-2752.
32. Park JK, Martin LJ, Zhang X, et al. Genetic variants in SCN5A promoter are associated with arrhythmia phenotype severity in patients with heterozygous loss-of-function mutation. Heart Rhythm 2012, 9:1090-1096.
33. Crotti L Gene expression and arrhythmic risk. Heart Rhythm 2012, 9:1097-1098.
34. Amin AS, Giudicessi JR, Tijsen AJ, et al. Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner. Eur Heart J 2012, 33:714-723.
35. Duchatelet S, Crotti L, Peat R, et al: Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in the long QT syndrome. Circulation Cardiovac Genet (In press).
36. 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 2000, 11:691-696.
37. Priori SG, Napolitano C, Schwartz PJ Low penetrance in the long-QT syndrome: clinical impact. Circulation 1999, 99:529-533.
38. Crotti L, Hu D, Barajas-Martinez H, et al. Tor-sades de pointes following acute myocardial infarction: Evidence for a deadly link with a common genetic variant. Heart Rhythm 2012, 9:1104-1112.
39. Kääb S, Crawford DC, Sinner MF, et al. A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes. Circ Cardiovasc Genet 2012, 5:91-99.
40. Jamshidi Y, Nolte IM, Dalageorgou C, et al. Common variation in the NOS1AP gene is associated with drug-induced QT prolongation and ventricular arrhythmia. J Am Coll Cardiol 2012, 60:841-850.
41. Schwartz PJ, Stramba-Badiale M, Segantini A, et al. Prolongation of the QT interval and the sudden infant death syndrome. N Engl J Med 1998, 338:1709-1714.
42. Schwartz PJ, Priori SG, Dumaine R, et al. A molecular link between the sudden infant death syndrome and the long QT syndrome. N Engl J Med 2000, 343:262-267.
43. Schwartz PJ, Priori SG, Bloise R, et al. Molecular diagnosis in a child with sudden infant death syndrome. Lancet 2001, 358:1342-1343.
44. Ackerman MJ, Siu BL, Sturner WQ, et al. Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA 2001, 286:2264-2269.
45. Arnestad M, Crotti L, Rognum TO, et al. Prevalence of long QT syndrome gene variants in sudden infant death syndrome. Circulation 2007, 115:361-367.
46. Quaglini S, Rognoni C, Spazzolini C, et al. Cost-effectiveness of neonatal ECG screening for the Long QT-Syndrome. Eur Heart J 2006, 15:1824-1832.
47. Schwartz PJ Stillbirths, sudden infant deaths, and long QT syndrome. Puzzle or mosaic, the pieces of the jigsaw are being fitted together. Circulation 2004, 109:2930-2932.
48. Crotti L, Tester DJ, White WM, et al. Long QT syndrome-associated mutations in intrauterine fetal death. JAMA 2013, 309:1473-1482.
49. Chockalingam P, Crotti L, Girardengo G, et al. Not all beta-blockers are equal in the management of long QT syndrome types 1 and 2: Higher recurrence of events under metoprolol. J Am Coll Cardiol 2012, 60:2092-2099.
50. Schwartz PJ, Spazzolini C, Crotti L All LQT3 patients need an ICD. True or false?. Heart Rhythm 2009, 6:113-120.
51. Wilde AA, Kaufman ES, Shimizu W, et al. Sodium channel mutations, risk of cardiac events, and efficacy of beta-blocker therapy in type 3 long QT syndrome. Heart Rhythm 2012, 9(May Suppl):S321.
52. Odero A, Bozzani A, De Ferrari GM, Schwartz PJ Left cardiac sympathetic denervation for the prevention of life-threatening arrhythmias. the surgical supraclavicular approach to cervico-thoracic sympathectomy. Heart Rhythm 2010, 7:1161-1165.
53. Collura CA, Johnson JN, Moir C, Ackerman MJ Left cardiac sympathetic denervation for the treatment of long QT syndrome and catecholaminergic polymorphic ventricular tachycardia using video-assisted thoracic surgery. Heart Rhythm 2009, 6:752-759.
54. Schwartz PJ, Priori SG, Cerrone M, et al. Left cardiac sympathetic denervation in the management of high-risk patients affected by the long QT syndrome. Circulation 2004, 109:1826-1833.
55. Schwartz PJ, Spazzolini C, Priori SG, et al. Who are the long-QT syndrome patients who receive an implantable cardioverter defibrillator and what happens to them? Data from the European long-QT syndrome implantable cardioverter-defibrillator (LQTS ICD) Registry. Circulation 2010, 122:1272-1282.
56. Goldenberg I, Horr S, Moss AJ, et al. Risk for life-threatening cardiac events in patients with genotype-confirmed Long-QT Syndrome and normal-range corrected QT intervals. J Am Coll Cardiol 2011, 57:51-59.
57. Moretti A, Bellin M, Welling A, et al. Patient-specific induced pluripotent stem-cell models forl Long QT Syndrome. N Eng J Med 2010, 363:1397-1409.
58. Itzhaki I, Maizels L, Huber I, et al. Modelling the long QT syndrome with induced pluripotent stem cells. Nature 2011, 471:225-229.
59. Malan D, Friedrichs S, Fleischmann BK, Sasse P Cardyomyocites obtained from induced pluripotent stem cells with long-QT syndrome 3 recapitulate typical disease-specific features in vitro. Circ Res 2011, 109:841-847.
60. Gnecchi M, Schwartz PJ The unstoppable attraction for induced pluripotent stem cells: are they the magic bullet for modeling inherited arrhythmogenic diseases?. J Am Coll Cardiol 2012, 60:1001-1004.
61. Schwartz PJ, Ackerman MJ The long QT syndrome A transatlantic clinical approach to diagnosis and therapy. Eur Heart J 2013.
62. Schwartz PJ, Ackerman MJ, George AL, Wilde AM Impact of genetics on the clinical management of channelopathies. J Am Coll Cardiol 2013, 62:169-180.
63. Gussak I, Brugada P, Brugada J, et al. Idiopathic short QT interval: a new clinical syndrome?. Cardiology 2000, 94:99-102.
64. Gaita F, Giustetto C, Bianchi F, et al. Short QT Syndrome: a familial cause of sudden death. Circulation 2003, 108:965-970.
65. Giustetto C, Scrocco C, Giachino D, et al. Short QT syndrome. Cardiogenetics 2011, 1(s1):21-27.
66. Gollob MH, Redpath CJ, Roberts JD The short QT syndrome: proposed diagnostic criteria. J Am Coll Cardiol 2011, 57:802-812.
67. Hong K, Piper DR, Diaz-Valdecantos A, et al. De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero. Cardiovasc Res 2005, 68:433-440.
68. Hattori T, Makiyama T, Akao M, et al. A novel gain-of-function KCNJ2 mutation associated with short-QT syndrome impairs inward rectification of Kir2.1 currents. Cardiovasc Res 2012, 93:666-673.
69. Antzelevitch C, Pollevick GD, Cordeiro JM, 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.
70. Giustetto C, Schimpf R, Mazzanti A, et al. Long-term follow-up of patients with short QT syndrome. J Am Coll Cardiol 2011, 58:587-595.
71. Gallagher MM, Magliano G, Yap YG, et al. Distribution and prognostic significance of QT intervals in the lowest half centile in 12,012 apparently healthy persons. Am J Cardiol 2006, 98:933-935.
72. Anttonen O, Junttila MJ, Rissanen H, et al. Prevalence and prognostic significance of short QT interval in a middle-aged Finnish population. Circulation 2007, 116:714-720.
73. Ackerman MJ, Priori SG, Willems S, et al. HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies. Europace 2011, 13:1077-1109.
74. Schimpf R, Wolpert C, Gaita F, et al. Short QT syndrome. Cardiovasc Res 2005, 67:357-366.
75. Schimpf R, Veltmann C, Giustetto C, et al. In vivo effects of mutant HERG K+ channel inhibition by disopyramide in patients with a short QT-1 syndrome: a pilot study. J Cardiovasc Electrophysiol 2007, 18:1157-1160.