Congenital long and short QT syndromes

Cardiology (Switzerland)

Volumn 122, Issue 4, 2012, Pages 237-247

  Brenyo, Andrew J ^a   Huang, David T ^a   Aktas, Mehmet K ^a  

^a STRONG MEMORIAL HOSPITAL   (United States)

Author keywords

Arrhythmias; Channelopathies; Long QT syndrome; Short QT syndrome

Indexed keywords

BETA ADRENERGIC RECEPTOR BLOCKING AGENT; FLECAINIDE; RANOLAZINE;

ARTICLE; CARDIOVASCULAR RISK; CLINICAL FEATURE; DEFIBRILLATOR; ELECTROCARDIOGRAPHY; GENE MUTATION; GENETIC ASSOCIATION; HEART MUSCLE POTENTIAL; HUMAN; LIFESTYLE MODIFICATION; LONG QT SYNDROME; PACEMAKER; PRIORITY JOURNAL; SHORT QT SYNDROME; SUDDEN DEAFNESS; SYMPATHECTOMY;

ADRENERGIC BETA-ANTAGONISTS; ARRHYTHMIAS, CARDIAC; CARDIAC PACING, ARTIFICIAL; DEFIBRILLATORS, IMPLANTABLE; ELECTROCARDIOGRAPHY; EXERCISE TEST; HUMANS; LONG QT SYNDROME; MUTATION; PHENOTYPE; POTASSIUM CHANNELS, VOLTAGE-GATED; RISK ASSESSMENT; RISK REDUCTION BEHAVIOR; SYMPATHECTOMY; THERAPIES, INVESTIGATIONAL;

EID: 84865050453     PISSN: 00086312     EISSN: 14219751     Source Type: Journal    
DOI: 10.1159/000339537     Document Type: Article

References (61)

1. Hedley PL, Jorgensen P, Schlamowitz S, et al: The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat 2009; 30:1486-1511.
2. Gussak I, Brugada P, Brugada J, et al: Idio-pathic short QT interval: a new clinical syndrome? Cardiology 2000; 94: 99-102. (Pubitemid 32110328)
3. 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. (Pubitemid 32050441)
4. Moss AJ, Robinson JL, Gessman L, et al: Comparison of clinical and genetic variables of cardiac events associated with loud noise versus swimming among subjects with the long QT syndrome. Am J Cardiol 1999; 84: 876-879. (Pubitemid 29475069)
5. Ackerman MJ, Tester DJ, Porter CJ: Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome. Mayo Clin Proc 1999; 74:1088-1094. (Pubitemid 30243241)
6. Gaita F, Giustetto C, Bianchi F, et al: Short QT syndrome: a familial cause of sudden death. Circulation 2003; 108: 965-970. (Pubitemid 37048226)
7. Goldenberg I, Zareba W, Moss AJ: Long QT sy ndrome. Curr Probl Cardiol 2008; 33: 629-694.
8. Imboden M, Swan H, Denjoy I, et al: Female predominance and transmission distortion in the long-QT syndrome. N Engl J Med 2006; 355: 2744-2751. (Pubitemid 46021511)
9. Giustetto C, Schimpf R, Mazzanti A, et al: Long-term follow-up of patients with short QT sy ndrome. J Am Coll Cardiol 2011; 58: 587-595.
10. Priori SG, Napolitano C, Schwartz PJ: Low penetrance in the long-QT syndrome: clinical impact. Circu lation 1999; 99: 529-533. (Pubitemid 29061868)
11. Jervell A, Lange-Nielsen F: Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death. Am Heart J 1957; 54: 59-68.
12. 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.
13. Goldenberg I, Moss AJ, Zareba W, et al: Clinical course and risk stratification of patients affected with the Jervell and Lange-Nielsen syndrome. J Cardiovasc Electrophysiol 2006; 17:1161-1168. (Pubitemid 44583855)
14. Priori SG, Schwartz PJ, Napolitano C, et al: Risk stratification in the long-QT syndrome. N Engl J Med 2003; 348:1866-1874. (Pubitemid 36532312)
15. Sansone V, Tawil R: Management and treatment of Andersen-Tawil syndrome (ATS). Neurot herapeutics 2007; 4: 233-237. (Pubitemid 46467540)
16. Tawil R, Ptacek LJ, Pavlakis SG, et al: Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmor-phic features. Ann Neurol 1994; 35: 326-330. (Pubitemid 24089656)
17. Bellocq C, van Ginneken AC, Bezzina CR, et al: Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. Circulation 2004; 109: 2394-2397. (Pubitemid 38679556)
18. Priori SG, Pandit SV, Rivolta I, et al: A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. Circ Res 2005; 96:800-807. (Pubitemid 40559520)
19. Gollob MH, Redpath CJ, Roberts JD: The short QT syndrome: proposed diagnostic criteria. J Am Coll Cardiol 2011; 57: 802-812.
20. Goldenberg I, Horr S, Moss AJ, et al: R isk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT inter va ls. J Am Coll Cardiol 2011; 57: 51-59.
21. Wong JA, Gula LJ, Klein GJ, Yee R, Skanes AC, Krahn AD: Utility of treadmill testing in identification and genotype prediction in long-QT syndrome. Circ Arrhythm Electro-physiol 2010; 3: 120-125.
22. Sy RW, van der Werf C, Chattha IS, et al: Derivation and validation of a simple exercise-based algorithm for prediction of genetic testing in relatives of LQTS probands. Circulation 2011; 124:2187-2194.
23. Shimizu W, Noda T, Takaki H, et al: Diagnostic value of epinephrine test for genotyp-ing LQT1, LQT2, and LQT3 forms of congenital long QT syndrome. Heart Rhythm 2004; 1:276-283. (Pubitemid 39549754)
24. Ackerman MJ, Khositseth A, Tester DJ, Hejlik JB, Shen WK, Porter CB: Epinephrine-induced QT interval prolongation: a gene-specific paradoxical response in congenital long QT syndrome. Mayo Clin Proc 2002; 77: 413-421. (Pubitemid 34465148)
25. Shimizu W, Noda T, Takaki H, et al: Epi-nephrine unmasks latent mutation carriers with LQT1 form of congenital long-QT syndrome. J Am Coll Cardiol 2003; 41:633-642. (Pubitemid 36223330)
26. Hekkala AM, Swan H, Viitasalo M, Vaanan-en H, Toivonen L: Epinephrine bolus test in detecting long QT syndrome mutation carriers with indeterminable electrocardiograph-ic phenotype. Ann Noninvasive Electrocar-diol 2011; 16:172-179.
27. Kapa S, Tester DJ, Salisbury BA, et al: Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation 2009; 120:1752-1760.
28. Ackerman MJ, Priori SG, Willems S, et al: HRS/EHRA expert consensus statement on the state of genetic testing for the channelo-pathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHR A). Europace 2011; 13: 1077-1109.
29. Gollob MH, Blier L, Brugada R, et al: Recommendations for the use of genetic testing in the clinical evaluation of inherited cardiac arrhythmias associated with sudden cardiac death: Canadian Cardiovascular Society/Canadian Heart Rhythm Society joint position paper. Can J Cardiol 2011; 27:232-245.
30. Bhandari AK, Shapiro WA, Morady F, Shen EN, Mason J, Scheinman MM: Electrophysi-ologic testing in patients with the long QT sy ndrome. Circu lation 1985; 71: 63-71. (Pubitemid 15164763)
31. Giustetto C, Di Monte F, Wolpert C, et al: Short QT syndrome: clinical findings and diagnostic-therapeutic implications. Eur Heart J 2006; 27: 2440-2447. (Pubitemid 44522151)
32. Goldenberg I, Moss AJ: Long QT syndrome. J Am Coll Cardiol 2008; 51: 2291-2300. (Pubitemid 351783362)
33. Goldenberg I, Moss AJ, Peterson DR, et al: Risk factors for aborted cardiac arrest and sudden cardiac death in children with the congenital long-QT syndrome. Circulation 2008; 117: 2184-2191.
34. Goldenberg I, Moss AJ, Bradley J, et al: Long-QT syndrome after age 40. Circulation 2008; 117:2192-2201.
35. Goldenberg I, Thottathil P, Lopes CM, et al: Trigger-specific ion-channel mechanisms, risk factors, and response to therapy in type 1 long QT sy ndrome. Heart Rhy t hm 2012; 9: 49-56.
36. Goldenberg I, Mathew J, Moss AJ, et al: Corrected QT variability in serial electrocardiograms in long QT syndrome: the importance of the maximum corrected QT for risk stratification. J Am Coll Cardiol 2006; 48:1047-1052. (Pubitemid 44292467)
37. Hobbs JB, Peterson DR, Moss AJ, et al: Risk of aborted cardiac arrest or sudden cardiac death during adolescence in the long-QT syndrome. JAMA 2006; 296:1249-1254. (Pubitemid 44394896)
38. Jons C, Moss AJ, Goldenberg I, et al: Risk of fatal arrhythmic events in long QT syndrome patients after syncope. J Am Coll Car-diol 2010; 55:783-788.
39. Zareba W, Moss AJ, Locati EH, et al: Modulating effects of age and gender on the clinic a l course of long QT sy ndrome by genot y pe. J Am Coll Cardiol 2003; 42:103-109. (Pubitemid 36760769)
40. Locati EH, Zareba W, Moss AJ, et al: Age-and sex-related differences in clinical manifestations in patients with congenital long-QT syndrome: findings from the International LQTS Registry. Circulation 1998; 97: 2237-2244. (Pubitemid 28265385)
41. Migdalovich D, Moss AJ, Lopes CM, et al: Mutation and gender-specific risk in type 2 long QT syndrome: implications for risk stratification for life-threatening cardiac events in patients with long QT syndrome. Heart Rhythm 2011; 8:1537-1543.
42. Sauer AJ, Moss AJ, McNitt S, et al: Long QT syndrome in adults. J Am Coll Cardiol 2007; 49:329-337. (Pubitemid 46097383)
43. Gaita F, Giustetto C, Bianchi F, et al: Short QT syndrome: pharmacological treatment. J Am Coll Cardiol 2004; 43:1494-1499. (Pubitemid 38496360)
44. Moss AJ, Zareba W, Hall WJ, et al: Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndrome. Circulation 2000; 101:616-623. (Pubitemid 30094732)
45. Vincent GM, Schwartz PJ, Denjoy I, et al: High efficacy of beta-blockers in long-QT syndrome type 1: contribution of noncom-pliance and QT-prolonging drugs to the occurrence of beta-blocker treatment 'failures'. Circulation 2009; 119: 215-221.
46. Priori SG, Napolitano C, Schwartz PJ, et al: Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers. JAMA 2004; 292:1341-1344. (Pubitemid 39223225)
47. Zareba W, Moss AJ, Daubert JP, Hall WJ, Robinson JL, Andrews M: Implantable car-dioverter defibrillator in high-risk long QT syndrome patients. J Cardiovasc Electro-physiol 2003; 14: 337-341. (Pubitemid 36529015)
48. Maron BJ, Chaitman BR, Ackerman MJ, et al: Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases. Circulation 2004; 109:2807-2816. (Pubitemid 38744555)
49. Goldenberg I, Bradley J, Moss A, et al: Beta-blocker efficacy in high-risk patients with the congenital long-QT syndrome types 1 and 2: implications for patient management. J Cardiovasc Electrophysiol 2010; 21:893-901.
50. Fabritz L, Damke D, Emmerich M, et al: Au-tonomic modulation and antiarrhythmic therapy in a model of long QT syndrome type 3. Cardiovasc Res 2010; 87:60-72.
51. Groh WJ, Silka MJ, Oliver R P, Halperin BD, McAnulty JH, Kron J: Use of implantable cardioverter-defibrillators in the congenital long QT syndrome. Am J Cardiol 1996; 78: 703-706. (Pubitemid 126658635)
52. Epstein AE, Dimarco JP, Ellenbogen KA, et al: ACC/AHA/HRS 2008 guidelines for device-based therapy of cardiac rhythm abnormalities. Heart Rhythm 2008; 5:e1-e62.
53. Monnig G, Kobe J, Loher A, et al: Implant-able cardioverter-defibrillator therapy in patients with congenital long-QT syndrome: a long-term follow-up. Heart Rhythm 2005; 2: 497-504. (Pubitemid 40521363)
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. (Pubitemid 38509115)
55. Eldar M, Griffin JC, Van Hare GF, et al: Combined use of beta-adrenergic blocking agents and long-term cardiac pacing for patients with the long QT syndrome. J Am Coll Cardiol 1992; 20: 830-837.
56. Viskin S: Cardiac pacingin the long QT syndrome: review of available data and practical recommendations. J Cardiovasc Electro-physiol 2000; 11: 593-600. (Pubitemid 30304814)
57. Chaitman BR: Ranolazine for the treatment of chronic angina and potential use in other cardiovascular conditions. Circulation 2006; 113: 2462-2472. (Pubitemid 43948054)
58. Moss AJ, Zareba W, Schwarz KQ, Rosero S, McNitt S, Robinson JL: Ranolazine shortens repolarization in patients with sustained inward sodium current due to type-3 long-QT syndrome. J Cardiovasc Electrophysiol 2008; 19: 1289-1293.
59. Moss AJ, Windle JR, Hall WJ, et al: Safety and efficacy of flecainide in subjects with long QT-3 syndrome (DeltaKPQ mutation): a randomized, double-blind, placebo-controlled clinical trial. Ann Noninvasive Elec-trocardiol 2005; 10: 59-66. (Pubitemid 44933555)
60. Khan IA, Nair CK: Brugada and long QT-3 syndromes: two phenotypes of the sodium channel disease. Ann Noninvasive Electro-ca rdiol 2004; 9: 280-289. (Pubitemid 39044081)
61. Kobza R: Identifying risk of cardiac events in short QT syndrome. Heart Rhy thm 2012; 9: 75-76.