Risk of syncope in family members who are genotype-negative for a family-associated Long-QT syndrome mutation

Circulation: Cardiovascular Genetics

Volumn 4, Issue 5, 2011, Pages 491-499

  Barsheshet, Alon ^a   Moss, Arthur J ^a   McNitt, Scott ^a   Polonsky, Slava ^a   Lopes, Coeli M ^a   Zareba, Wojciech ^a   Robinson, Jennifer L ^a   Ackerman, Michael J ^b   Benhorin, Jesaia ^c   Kaufman, Elizabeth S ^d   Towbin, Jeffrey A ^e   Vincent, G Michael ^f   Qi, Ming ^a   Goldenberg, Ilan ^a  

^a UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^b MAYO CLINIC   (United States)

^c TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^d CASE WESTERN RESERVE UNIVERSITY   (United States)

^e CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^f LDS HOSPITAL   (United States)

Author keywords

Gene mutation; Genetic polymorphisms; Long QT syndrome; Sudden cardiac death arrhythmia; Syncope

Indexed keywords

ARTICLE; CARDIOVASCULAR RISK; DISEASE REGISTRY; FEMALE; FOLLOW UP; GENETIC POLYMORPHISM; GENOTYPE; HEART ARREST; HUMAN; LONG QT SYNDROME; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; RISK ASSESSMENT; SEX DIFFERENCE; SYNCOPE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; CHILD; CHILD, PRESCHOOL; DEATH, SUDDEN, CARDIAC; ETHER-A-GO-GO POTASSIUM CHANNELS; FAMILY; FEMALE; GENOTYPE; HEART ARREST; HUMANS; INFANT; INFANT, NEWBORN; KCNQ1 POTASSIUM CHANNEL; LONG QT SYNDROME; MALE; MUTATION; PHENOTYPE; POLYMORPHISM, GENETIC; PROPORTIONAL HAZARDS MODELS; RISK FACTORS; SODIUM CHANNELS; SYNCOPE;

EID: 82955189777     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.111.960179     Document Type: Article

References (40)

1. Moss AJ, Schwartz PJ, Crampton RS, Tzivoni D, Locati EH, MacCluer J, Hall WJ, Weitkamp L, Vincent GM, Garson A. The long QT syndrome: prospective longitudinal study of 328 families. Circulation. 1991;84: 1136-1144.
2. Zareba W, Moss AJ, Schwartz PJ, Vincent GM, Robinson JL, Priori SG, Benhorin J, Locati EH, Towbin JA, Keating MT, Lehmann MH, Hall WJ. Influence of genotype on the clinical course of the long-QT syndrome: International Long-QT Syndrome Registry Research Group. N Engl J Med. 1998;339:960-965. (Pubitemid 28455098)
3. Shimizu W, Antzelevitch C. Differential effects of beta-adrenergic agonists and antagonists in LQT1, LQT2 and LQT3 models of the long QT syndrome. J Am Coll Cardiol. 2000;35:778-786. (Pubitemid 30167037)
4. Moss AJ, Shimizu W, Wilde AA, Towbin JA, Zareba W, Robinson JL, Qi M, Vincent GM, Ackerman MJ, Kaufman ES, Hofman N, Seth R, Kamakura S, Miyamoto Y, Goldenberg I, Andrews ML, McNitt S. 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. (Pubitemid 46763221)
5. Shimizu W, Horie M, Ohno S, Takenaka K, Yamaguchi M, Shimizu M, Washizuka T, Aizawa Y, Nakamura K, Ohe T, Aiba T, Miyamoto Y, Yoshimasa Y, Towbin JA, Priori SG, Kamakura S. Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome: multicenter study in Japan. J Am Coll Cardiol. 2004;44:117-125. (Pubitemid 38968469)
6. 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. Genotype-phenotype aspects of type 2 long QT syndrome. J Am Coll Cardiol. 2009;54:2052-2062.
7. Goldenberg I, Moss AJ. Long QT syndrome. J Am Coll Cardiol. 2008; 51:2291-2300.
8. Priori SG, Schwartz PJ, Napolitano C, Bloise R, Ronchetti E, Grillo M, Vicentini A, Spazzolini C, Nastoli J, Bottelli G, Folli R, Cappelletti D. Risk stratification in the long-QT syndrome. N Engl J Med. 2003;348: 1866-1874. (Pubitemid 36532312)
9. 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. Positional cloning of a novel potassium channel gene: KvLQT1 mutations cause cardiac arrhythmias. Nat Genet. 1996;12:17-23. (Pubitemid 26011314)
10. Curran ME, Splawski I, Timothy KW, Vincent GM, Green ED, Keating MT. A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell. 1995;80:795-803.
11. Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson JL, Moss AJ, Towbin JA, Keating MT. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell. 1995;80:805-811.
12. Bazett H. An analysis of the time relations of electrocardiograms. Heart. 1920;7:14.
13. Mantel N, Byar D. Evaluation of response-time data involving transient states: an illustration using heart transplant data. J Am Stat Assoc. 1974; 69:81-86.
14. Prentice R, Williams B, Peterson A. On the regression analysis of multivariate failure time data. Biometrika. 1981;373-379.
15. Therneau TM, Grambsch PM. Modeling Survival Data: Extending the Cox Model. New York, NY: Springer-Verlag; 2000.
16. Priori SG, Napolitano C, Schwartz PJ. Low penetrance in the long-QT syndrome: clinical impact. Circulation. 1999;99:529-533. (Pubitemid 29061868)
17. Vincent GM, Timothy KW, Leppert M, Keating M. The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT syndrome. N Engl J Med. 1992;327:846-852.
18. Zareba W, Moss AJ, Locati EH, Lehmann MH, Peterson DR, Hall WJ, Schwartz PJ, Vincent GM, Priori SG, Benhorin J, Towbin JA, Robinson JL, Andrews ML, Napolitano C, Timothy K, Zhang L, Medina A. Modulating effects of age and gender on the clinical course of long QT syndrome by genotype. J Am Coll Cardiol. 2003;42:103-109. (Pubitemid 36760769)
19. Napolitano C, Priori SG, Schwartz PJ, Bloise R, Ronchetti E, Nastoli J, Bottelli G, Cerrone M, Leonardi S. Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005;294:2975-2980. (Pubitemid 41817658)
20. Nof E, Cordeiro JM, Perez GJ, Scornik FS, Calloe K, Love B, Burashnikov E, Caceres G, Gunsburg M, Antzelevitch C. A common single nucleotide polymorphism can exacerbate long-QT type 2 syndrome leading to sudden infant death. Circ Cardiovasc Genet. 2010;3:199-206.
21. 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. D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome. J Am Coll Cardiol. 2009;54:812-819.
22. Crotti L, Lundquist AL, Insolia R, Pedrazzini M, Ferrandi C, De Ferrari GM, Vicentini A, Yang P, Roden DM, George AL Jr, Schwartz PJ. KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome. Circulation. 2005;112:1251-1258. (Pubitemid 41266719)
23. Westenskow P, Splawski I, Timothy KW, Keating MT, Sanguinetti MC. Compound mutations: a common cause of severe long-QT syndrome. Circulation. 2004;109:1834-1841. (Pubitemid 38509116)
24. Yang P, Kanki H, Drolet B, Yang T, Wei J, Viswanathan PC, Hohnloser SH, Shimizu W, Schwartz PJ, Stanton M, Murray KT, Norris K, George AL Jr, Roden DM. Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. Circulation. 2002;105:1943-1948. (Pubitemid 34437622)
25. Hu D, Viskin S, Oliva A, Cordeiro JM, Guerchicoff A, Pollevick GD, Antzelevitch C. Genetic predisposition and cellular basis for ischemiainduced ST-segment changes and arrhythmias. J Electrocardiol. 2007; 40:S26-S29. (Pubitemid 350052060)
26. Crotti L, Hu D, Insolia R, Barajas-Martinez H, Pollevick GD, Oliva A, Guerchicoff A, De Ferrari G, Dagradi F, Schwartz PJ, Viskin S, Antzelevitch C. KCNH2-K897T polymorphism increases the risk of lifethreatening arrhythmias following acute myocardial infarction [abstract]. Heart Rhythm. 2010;7:1720.
27. Pfeufer A, Jalilzadeh S, Perz S, Mueller JC, Hinterseer M, Illig T, Akyol M, Huth C, Schopfer-Wendels A, Kuch B, Steinbeck G, Holle R, Nabauer M, Wichmann HE, Meitinger T, Kaab S. Common variants in myocardial ion channel genes modify the QT interval in the general population: results from the KORA study. Circ Res. 2005;96:693-701. (Pubitemid 40478337)
28. Gouas L, Nicaud V, Berthet M, Forhan A, Tiret L, Balkau B, Guicheney P. Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population. Eur J Hum Genet. 2005;13:1213-1222.
29. 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. Common genetic variation in KCNH2 is associated with QT interval duration: the Framingham Heart Study. Circulation. 2007; 116:1128-1136. (Pubitemid 47360215)
30. Pietila E, Fodstad H, Niskasaari E, Laitinen PP, Swan H, Savolainen M, Kesaniemi YA, Kontula K, Huikuri HV. Association between HERG K897T polymorphism and QT interval in middle-aged Finnish women. J Am Coll Cardiol. 2002;40:511-514. (Pubitemid 34833168)
31. Drici MD, Burklow TR, Haridasse V, Glazer RI, Woosley RL. Sex hormones prolong the QT interval and downregulate potassium channel expression in the rabbit heart. Circulation. 1996;94:1471-1474. (Pubitemid 26307281)
32. Hara M, Danilo P Jr, Rosen MR. Effects of gonadal steroids on ventricular repolarization and on the response to E4031. J Pharmacol Exp Ther. 1998;285:1068-1072. (Pubitemid 28277905)
33. Goldenberg I, Horr S, Moss AJ, Lopes CM, Barsheshet A, McNitt S, Zareba W, Andrews ML, Robinson JL, Locati EH, Ackerman MJ, Benhorin J, Kaufman ES, Napolitano C, Platonov PG, Priori SG, Qi M, Schwartz PJ, Shimizu W, Towbin JA, Vincent GM, Wilde AA, Zhang L. Risk for life-threatening cardiac events in patients with genotypeconfirmed long-QT syndrome and normal-range corrected QT intervals. J Am Coll Cardiol. 2011;57:51-59.
34. Soteriades ES, Evans JC, Larson MG, Chen MH, Chen L, Benjamin EJ, Levy D. Incidence and prognosis of syncope. N Engl J Med. 2002;347:878-885.
35. Sirbaugh PE, Pepe PE, Shook JE, Kimball KT, Goldman MJ, Ward MA, Mann DM. A prospective, population-based study of the demographics, epidemiology, management, and outcome of out-of-hospital pediatric cardiopulmonary arrest. Ann Emerg Med. 1999;33:174-184. (Pubitemid 29180081)
36. Ong ME, Stiell I, Osmond MH, Nesbitt L, Gerein R, Campbell S, McLellan B. Etiology of pediatric out-of-hospital cardiac arrest by coroner's diagnosis. Resuscitation. 2006;68:335-342. (Pubitemid 43288085)
37. Chugh SS, Reinier K, Balaji S, Uy-Evanado A, Vickers C, Mariani R, Gunson K, Jui J. Population-based analysis of sudden death in children: the Oregon Sudden Unexpected Death Study. Heart Rhythm. 2009;6: 1618-1622.
38. Atkins DL, Everson-Stewart S, Sears GK, Daya M, Osmond MH, Warden CR, Berg RA. Epidemiology and outcomes from out-of-hospital cardiac arrest in children: the Resuscitation Outcomes Consortium EPISTRYCardiac Arrest. Circulation. 2009;119:1484-1491.
39. Kitamura T, Iwami T, Kawamura T, Nagao K, Tanaka H, Nadkarni VM, Berg RA, Hiraide A. Conventional and chest-compression-only cardiopulmonary resuscitation by bystanders for children who have out-ofhospital cardiac arrests: a prospective, nationwide, population-based cohort study. Lancet. 2010;375:1347-1354.
40. Bardai A, Berdowski J, van der Werf C, Blom MT, Ceelen M, van Langen IM, Tijssen JG, Wilde AA, Koster RW, Tan HL. Incidence, causes, and outcomes of out-of-hospital cardiac arrest in children a comprehensive, prospective, population-based study in the Netherlands. J Am Coll Cardiol. 2011;57:1822-1828.