Angeborenes Langes QT-Syndrom

Herzschrittmachertherapie + Elektrophysiologie - Tập 23 Số 3 - Trang 211-219 - 2012
Sven Zumhagen1, Birgit Stallmeyer1, Corinna Friedrich1, Lars Eckardt2, Guiscard Seebohm1, Eric Schulze‐Bahr1
1Institute for Genetics of Heart Diseases (IfGH), Department of Cardiovascular Medicine, University Hospital Münster, Münster, Germany
2Division of Experimental and Clinical Electrophysiology, Department of Cardiovascular Medicine, University Hospital Münster, Münster, Germany

Tóm tắt

Từ khóa


Tài liệu tham khảo

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

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

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

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

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

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

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

Crotti L, Celano G, Dagradi F et al (2008) Congenital long QT syndrome. Orphanet J Rare Dis 3:18

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

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

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]

Goldenberg I, Moss AJ, Zareba W (2006) QT interval: how to measure it and what is “normal”. J Cardiovasc Electrophysiol 17:333–336

Goldenberg I, Bradley J, Moss A et al (2010) Beta-blocker 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

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

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

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

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

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

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

Khan IA, Gowda RM (2004) Novel therapeutics for treatment of long-QT syndrome and torsade de pointes. Int J Cardiol 95:1–6

Kim JA, Lopes CM, Moss AJ et al (2010) Trigger-specific risk factors and response to therapy in long QT syndrome type 2. Heart Rhythm 7:1797–1805

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Schwartz PJ (1985) Idiopathic long QT syndrome: progress and questions. Am Heart J 109:399–411

Schwartz PJ (2005) Management of long QT syndrome. Nat Clin Pract Cardiovasc Med 2:346–351

Schwartz PJ (2006) The congenital long QT syndromes from genotype to phenotype: clinical implications. J Intern Med 259:39–47

Schwartz PJ, Stramba-Badiale M (2010) Repolarization abnormalities in the newborn. J Cardiovasc Pharmacol 55:539–543

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

Schwartz PJ, Stramba-Badiale M, Crotti L et al (2009) Prevalence of the congenital long-QT syndrome. Circulation 120:1761–1767

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

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

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

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

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

Wang Q, Shen J, Splawski I et al (1995) SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 80:805–811

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

Zareba W (2006) Genotype-specific ECG patterns in long QT syndrome. J Electrocardiol 39:S101–S106

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

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

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