Genotype-Phenotype Aspects of Type 2 Long QT Syndrome

Journal of the American College of Cardiology

Volumn 54, Issue 22, 2009, Pages 2052-2062

  Shimizu, Wataru ^a   Moss, Arthur J ^b   Wilde, Arthur A M ^c   Towbin, Jeffrey A ^d   Ackerman, Michael J ^e   January, Craig T ^f   Tester, David J ^e   Zareba, Wojciech ^b   Robinson, Jennifer L ^b   Qi, Ming ^b   Vincent, G Michael ^g   Kaufman, Elizabeth S ^h   Hofman, Nynke ^c   Noda, Takashi ^a   Kamakura, Shiro ^a   Miyamoto, Yoshihiro ^a   Shah, Samit ^b   Amin, Vinit ^b   Goldenberg, Ilan ^b   Andrews, Mark L ^b   McNitt, Scott ^b   more..

^a NATIONAL CEREBRAL AND CARDIOVASCULAR CENTER   (Japan)

^b UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d TEXAS CHILDREN S HOSPITAL   (United States)

^e Mayo Clinic   (United States)

^f UNIVERSITY OF WISCONSIN MADISON   (United States)

^g UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^h Heart and Vascular Research Center ^*  (United States)

Author keywords

arrhythmia; electrocardiography; genetics; long QT syndrome; syncope

Indexed keywords

BETA ADRENERGIC RECEPTOR BLOCKING AGENT;

ADOLESCENT; ADULT; ALPHA HELIX; AMINO TERMINAL SEQUENCE; ARTICLE; BETA SHEET; CARBOXY TERMINAL SEQUENCE; FEMALE; GENE; GENE LOCATION; GENE MUTATION; GENETIC RISK; GENOTYPE PHENOTYPE CORRELATION; HIGH RISK POPULATION; HUMAN; KCNH2 GENE; LONG QT SYNDROME; LONG QT SYNDROME TYPE 2; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN;

ADOLESCENT; ADULT; CHILD; CODON, NONSENSE; ETHER-A-GO-GO POTASSIUM CHANNELS; FEMALE; GENOTYPE; HUMANS; LONG QT SYNDROME; MALE; MEMBRANE POTENTIALS; MODELS, MOLECULAR; MUTATION, MISSENSE; PHENOTYPE; PROPORTIONAL HAZARDS MODELS; PROTEIN STRUCTURE, SECONDARY; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 71849098104     PISSN: 07351097     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jacc.2009.08.028     Document Type: Article

References (31)

1. Moss A.J., and Kass R.S. Long QT syndrome: from channels to cardiac arrhythmias. J Clin Invest 115 (2005) 2018-2024
2. Shimizu W. The long QT syndrome: therapeutic implications of a genetic diagnosis. Cardiovasc Res 67 (2005) 347-356
3. Curran M.E., Splawski I., Timothy K.W., Vincent G.M., Green E.D., and Keating M.T. A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell 80 (1995) 795-803
4. Sanguinetti M.C., Jiang C., Curran M.E., and Keating M.T. A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel. Cell 81 (1995) 299-307
5. January C.T., Gong Q., and Zhou Z. Long QT syndrome: cellular basis and arrhythmia mechanism in LQT2. J Cardiovasc Electrophysiol 11 (2000) 1413-1418
6. Ficker E., Dennis A.T., Obejero-Paz C.A., Castaldo P., Taglialatela M., and Brown A.M. Retention in the endoplasmic reticulum as a mechanism of dominant-negative current suppression in human long QT syndrome. J Mol Cell Cardiol 32 (2000) 2327-2337
7. Sanguinetti M.C., and Tristani-Firouzi M. hERG potassium channels and cardiac arrhythmia. Nature 440 (2006) 463-469
8. Anderson C.L., Delisle B.P., Anson B.D., et al. Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation 113 (2006) 365-373
9. Moss A.J., Zareba W., Kaufman E.S., 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 105 (2002) 794-799
10. McConkey E.H. Mutation qualitative aspects. In: McConkey E.H. (Ed). Human Genetics: The Molecular Revolution (1993), Jones and Bartlett, Boston, MA 139-159
11. Moss A.J., Shimizu W., Wilde A.A., et al. Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. Circulation 115 (2007) 2481-2489
12. Nagaoka I., Shimizu W., Itoh H., et al. Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. Circ J 72 (2008) 694-699
13. Splawski I., Shen J., Timothy K.W., et al. Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation 102 (2000) 1178-1185
14. Swiss Institute of Bioinformatics. UniProtKB/Swiss-Prot: KCNH2_HUMAN (Q12809). http://ca.expasy.org/cgi-bin/ft_viewer.pl?Q12809 Accessed October 19, 2009
15. Cox D.R. Regression models and life-tables. J Stat Soc [B] 34 (1972) 187-220
16. Lin D.Y., and Wei L.J. The robust inference for the proportional hazards model. J Am Stat Assoc 84 (1989) 1074-1078
17. Wang Q., Shen J., Splawski I., et al. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 80 (1995) 805-811
18. Roden D.M. Clinical practice. Long-QT syndrome. N Engl J Med 358 (2008) 169-176
19. Ueda K., Valdivia C., Medeiros-Domingo A., et al. Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. Proc Natl Acad Sci U S A 105 (2008) 9355-9360
20. Wu G., Ai T., Kim J.J., et al. Alpha-1-syntrophin mutation and the long QT syndrome: a disease of sodium channel disruption. Circ Arrhythmia Electrophysiol 1 (2008) 193-201
21. Zareba W., Moss A.J., Schwartz P.J., et al. Influence of the genotype on the clinical course of the long-QT syndrome. N Engl J Med 339 (1998) 960-965
22. Wilde A.A., Jongbloed R.J., Doevendans P.A., et al. Auditory stimuli as a trigger for arrhythmic events differentiate HERG-related (LQT2) patients from KVLQT1-related patients (LQT1). J Am Coll Cardiol 33 (1999) 327-332
23. Schwartz P.J., Priori S.G., Spazzolini C., et al. Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation 103 (2001) 89-95
24. Priori S.G., Schwartz P.J., Napolitano C., et al. Risk stratification in the long-QT syndrome. N Engl J Med 348 (2003) 1866-1874
25. Shimizu W., Noda T., Takaki H., et al. Diagnostic value of epinephrine test for genotyping LQT1, LQT2 and LQT3 forms of congenital long QT syndrome. Heart Rhythm 1 (2004) 276-283
26. Zareba W., Moss A.J., Sheu G., et al. Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. J Cardiovasc Electrophysiol 14 (2003) 1149-1153
27. Shimizu W., Horie M., Ohno S., et al. Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in LQT1 form of congenital long QT syndrome. Multi-center study in Japan. J Am Coll Cardiol 44 (2004) 117-125
28. Gong Q., Zhang L., Vincent G.M., Horne B.D., and Zhou Z. Nonsense mutations in hERG cause a decrease in mutant mRNA transcripts by nonsense-mediated mRNA decay in human long-QT syndrome. Circulation 116 (2007) 17-24
29. Moss A.J., Zareba W., Hall W.J., et al. Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndrome. Circulation 101 (2000) 616-623
30. Priori S.G., Napolitano C., Schwartz P.J., et al. Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers. JAMA 292 (2004) 1341-1344
31. Shimizu W., and 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 35 (2000) 778-786