Inherited long QT syndrome. Clinical manifestation, genetic diagnostics, and therapy

Herzschrittmachertherapie und Elektrophysiologie

Volumn 23, Issue 3, 2012, Pages 211-219

  Zumhagen, Sven ^a   Stallmeyer, Birgit ^a   Friedrich, Corinna ^a   Eckardt, Lars ^a   Seebohm, Guiscard ^a   Schulze Bahr, Eric ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

Genetic; Long QT syndrome; Mutation; Phenotype; Risk stratification

Indexed keywords

BETA ADRENERGIC RECEPTOR BLOCKING AGENT; BISOPROLOL; FLECAINIDE; MEXILETINE; PHENYTOIN; RANOLAZINE;

ARTICLE; CARDIOVASCULAR MORTALITY; CARDIOVASCULAR RISK; CLINICAL FEATURE; ELECTROCARDIOGRAPHY; FALSE NEGATIVE RESULT; FALSE POSITIVE RESULT; GENE; GENETIC ASSOCIATION; GENETIC SCREENING; HEART VENTRICLE ARRHYTHMIA; HETEROZYGOTE DETECTION; HIGH RISK PATIENT; HUMAN; IMPLANTABLE CARDIOVERTER DEFIBRILLATOR; KCNH2 GENE; KCNQ1 GENE; LONG QT SYNDROME; MUTATIONAL ANALYSIS; PHENOTYPIC VARIATION; QT INTERVAL; RISK ASSESSMENT; RISK FACTOR; SCN5A GENE; SENSITIVITY AND SPECIFICITY; T WAVE;

GENETIC PREDISPOSITION TO DISEASE; GERMANY; HUMANS; INCIDENCE; LONG QT SYNDROME; RISK FACTORS; SURVIVAL ANALYSIS; SURVIVAL RATE;

EID: 84868562533     PISSN: 09387412     EISSN: 14351544     Source Type: Journal    
DOI: 10.1007/s00399-012-0232-8     Document Type: Article

References (53)

1. Ackerman MJ, Priori SG, Willems S et al (2011) HRS/ EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Europace 13:1077-1109
2. Amin AS, Giudicessi JR, Tijsen AJ et al. (2012) 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 33:714- 723
3. Anderson CL, Delisle BP, Anson BD et al (2006) Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation 113:365-373
4. Bartos DC, Duchatelet S, Burgess DE et al (2011) R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation. Heart Rhythm 8:48-55
5. Bellocq C, Van Ginneken AC, Bezzina CR et al (2004) Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. Circulation 109:2394- 2397
6. Bhuiyan ZA, Momenah TS, Gong Q et al (2008) Recurrent intrauterine fetal loss due to near absence of HERG: clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation. Heart Rhythm 5:553-561
7. Chen S, Zhang L, Bryant RM et al (2003) KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death. Clin Genet 63:273-282
8. Crotti L, Celano G, Dagradi F et al (2008) Congenital long QT syndrome. Orphanet J Rare Dis 3:18
9. Etheridge SP, Bowles NE, Arrington CB et al (2011) Somatic mosaicism contributes to phenotypic variation in Timothy syndrome. Am J Med Genet A 155A:2578-2583
10. Gemma LW, Ward GM, Dettmer MM et al (2011) beta-blockers protect against dispersion of repolarization during exercise in congenital long- QT syndrome type 1. J Cardiovasc Electrophysiol 22:1141-1146
11. Gillis J, Burashnikov E, Antzelevitch C et al (2011) Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: Expanding the spectrum of Timothy syndrome. Am J Med Genet A [Epub ahead of print]
12. Goldenberg I, Moss AJ, Zareba W (2006) QT interval: how to measure it and what is "normal". J Cardiovasc Electrophysiol 17:333-336
13. Goldenberg I, Bradley J, Moss A et al (2010) Betablocker efficacy in high-risk patients with the congenital long-QT syndrome types 1 and 2: implications for patient management. J Cardiovasc Electrophysiol 21:893-901
14. Goldenberg I, Horr S, Moss AJ et al (2011) Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal- range corrected QT intervals. J Am Coll Cardiol 57:51-59
15. Goldenberg I, Thottathil P, Lopes CM et al (2012) Trigger-specific ion-channel mechanisms, risk factors, and response to therapy in type 1 long QT syndrome. Heart Rhythm 9:49-56
16. Hobbs JB, Peterson DR, Moss AJ et al (2006) Risk of aborted cardiac arrest or sudden cardiac death during adolescence in the long-QT syndrome. JAMA 296:1249-1254
17. Hofman N, Wilde AA, Kaab S et al (2007) Diagnostic criteria for congenital long QT syndrome in the era of molecular genetics: do we need a scoring system? Eur Heart J 28:575-580
18. Johnson WH, Jr, Yang P, Yang T et al (2003) Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome. Pediatr Res 53:744-748
19. Kaufman ES, Mcnitt S, Moss AJ et al (2008) Risk of death in the long QT syndrome when a sibling has died. Heart Rhythm 5:831-836
20. Khan IA, Gowda RM (2004) Novel therapeutics for treatment of long-QT syndrome and torsade de pointes. Int J Cardiol 95:1-6
21. Kim JA, Lopes CM, Moss AJ et al (2010) Triggerspecific risk factors and response to therapy in long QT syndrome type 2. Heart Rhythm 7:1797- 1805
22. Kurokawa J, Tamagawa M, Harada N et al (2008) Acute effects of oestrogen on the guinea pig and human IKr channels and drug-induced prolongation of cardiac repolarization. J Physiol 586:2961- 2973
23. Migdalovich D, Moss AJ, Lopes CM et al (2011) 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 8:1537-1543
24. Mihic A, Chauhan VS, Gao X et al (2011) Trafficking defect and proteasomal degradation contribute to the phenotype of a novel KCNH2 long QT syndrome mutation. PLoS One 6:e18273
25. Mohler PJ, Schott JJ, Gramolini AO et al (2003) Ankyrin- B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature 421:634-639
26. Moss AJ, Zareba W, Benhorin J et al (1995) ECG T-wave patterns in genetically distinct forms of the hereditary long QT syndrome. Circulation 92:2929-2934
27. Moss AJ, Zareba W, Hall WJ et al (2000) Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndrome. Circulation 101:616-623
28. Moss AJ, Zareba W, Schwarz KQ et al (2008) Ranolazine shortens repolarization in patients with sustained inward sodium current due to type-3 long-QT syndrome. J Cardiovasc Electrophysiol 19:1289-1293
29. Obeyesekere MN, Klein GJ, Modi S et al (2011) How to perform and interpret provocative testing for the diagnosis of Brugada syndrome, long-QT syndrome, and catecholaminergic polymorphic ventricular tachycardia. Circ Arrhythm Electrophysiol 4:958-964
30. Paulussen AD, Gilissen RA, Armstrong M et al (2004) Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. J Mol Med (Berl) 82:182-188
31. Plaster NM, Tawil R, Tristani-Firouzi M et al (2001) Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 105:511-519
32. Priori SG, Napolitano C, Schwartz PJ et al (2004) Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers. JAMA 292:1341-1344
33. Priori SG, Pandit SV, Rivolta I et al (2005) A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. Circ Res 96:800-807
34. Rautaharju PM, Zhou SH, Wong S et al (1992) Sex differences in the evolution of the electrocardiographic QT interval with age. Can J Cardiol 8:690- 695
35. Rautaharju PM, Surawicz B, Gettes LS et al (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
36. Ruan Y, Denegri M, Liu N et al (2010) Trafficking defects and gating abnormalities of a novel SCN5A mutation question gene-specific therapy in long QT syndrome type 3. Circ Res 106:1374-1383
37. Schwartz PJ (1985) Idiopathic long QT syndrome: progress and questions. Am Heart J 109:399-411
38. Schwartz PJ (2005) Management of long QT syndrome. Nat Clin Pract Cardiovasc Med 2:346-351
39. Schwartz PJ (2006) The congenital long QT syndromes from genotype to phenotype: clinical implications. J Intern Med 259:39-47
40. Schwartz PJ, Stramba-Badiale M (2010) Repolarization abnormalities in the newborn. J Cardiovasc Pharmacol 55:539-543
41. Schwartz PJ, Spazzolini C, Crotti L et al (2006) The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome. Circulation 113:783-790
42. Schwartz PJ, Stramba-Badiale M, Crotti L et al (2009) Prevalence of the congenital long-QT syndrome. Circulation 120:1761-1767
43. Schwartz PJ, Spazzolini C, Priori SG et al (2010) 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 122:1272- 1282
44. Shimizu W, Noda T, Takaki H et al (2003) Epinephrine unmasks latent mutation carriers with LQT1 form of congenital long-QT syndrome. J Am Coll Cardiol 41:633-642
45. Stramba-Badiale M, Spagnolo D, Bosi G et al (1995) Are gender differences in QTc present at birth? MISNES Investigators. Multicenter Italian Study on Neonatal Electrocardiography and Sudden Infant Death Syndrome. Am J Cardiol 75:1277-1278
46. Tester DJ, Will ML, Haglund CM et al (2005) Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm 2:507- 517
47. Tristani-Firouzi M, Jensen JL, Donaldson MR et al (2002) Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest 110:381-388
48. Wang Q, Shen J, Splawski I et al (1995) SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 80:805-811
49. Yang Y, Liang B, Liu J et al (2010) Identification of a Kir3.4 mutation in congenital long QT syndrome. Am J Hum Genet 86:872-880
50. Zareba W (2006) Genotype-specific ECG patterns in long QT syndrome. J Electrocardiol 39:S101- S106
51. Zareba W, Moss AJ, Locati EH et al (2003) Modulating effects of age and gender on the clinical course of long QT syndrome by genotype. J Am Coll Cardiol 42:103-109
52. Zhang S, Yin K, Ren X et al (2008) Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family. BMC Med Genet 9:24
53. Zhang X, Chen S, Zhang L et al (2008) Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations. BMC Med Genet 9:87