Long QT syndrome, cardiovascular anomaly and findings in ECG-guided genetic testing

IJC Heart and Vessels

Volumn 4, Issue 1, 2014, Pages 122-128

  Al Senaidi, Khalfan S ^a   Wang, Guoliang ^b   Zhang, Li ^c   Beer, Dominik A ^d   AlFarqani, Abdullah M ^e   AlMaskaryi, Salim N ^e   Penny, Daniel J ^b   Kowey, Peter R ^c   Fan, Yuxin ^b  

^a SULTAN QABOOS UNIVERSITY HOSPITAL   (Oman)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c THOMAS JEFFERSON UNIVERSITY   (United States)

^d PHILADELPHIA COLLEGE OF OSTEOPATHIC MEDICINE   (United States)

^e ROYAL HOSPITAL   (Oman)

Author keywords

Gene specific ECG patterns; Heterozygous; Homozygous; Long QT syndrome; Sudden death

Indexed keywords

GENOMIC DNA;

ADULT; AGED; ARTERY DILATATION; ARTICLE; ASCENDING AORTA; ATRIOVENTRICULAR BLOCK; CARDIAC IMAGING; CARDIOVASCULAR MALFORMATION; CHILD; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; ECG ABNORMALITY; ELECTROCARDIOGRAPHY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HEART RATE; HEART RIGHT BUNDLE BRANCH BLOCK; HEART VENTRICLE TACHYCARDIA; HETEROZYGOTE; HUMAN; KCNH2 GENE; LONG QT SYNDROME; MALE; PARENT; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PULMONARY ARTERY; QRS COMPLEX; QT PROLONGATION; SEQUENCE ANALYSIS; SUDDEN CARDIAC DEATH; T WAVE;

EID: 84922243891     PISSN: 22147632     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ijchv.2014.06.001     Document Type: Article

References (33)

1. Schwartz P.J., Periti M., Malliani A. The long Q-T syndrome. Am Heart J 1975, 89:378-390.
2. Vincent G.M., Timothy K.W., 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.
3. Tan H.L., Hou C.J., Lauer M.R., Sung R.J. Electrophysiologic mechanisms of the long QT interval syndromes and torsade de pointes. Ann Intern Med 1995, 122:701-714.
4. Schwartz P.J., Priori S.G., Spazzolini C., Moss A.J., Vincent G.M., Napolitano C., et al. Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation 2001, 103:89-95.
5. Tan H.L., Bardai A., Shimizu W., Moss A.J., Schulze-Bahr E., Noda T., et al. Genotype-specific onset of arrhythmias in congenital long-QT syndrome: possible therapy implications. Circulation 2006, 114:2096-2103.
6. Drew B.J., Ackerman M.J., Funk M., Gibler W.B., Kligfield P., Menon V., et al. Prevention of torsade de pointes in hospital settings: a scientific statement from the American Heart Association and the American College of Cardiology Foundation. J Am Coll Cardiol 2010, 55:934-947.
7. Weeke P., Mosley J.D., Hanna D., Delaney J.T., Shaffer C., Wells Q.S., et al. Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug induced long QT syndrome. J Am Coll Cardiol 2014, 63(14):1430-1437.
8. Roden D.M. Cellular basis of drug-induced torsades de pointes. Br J Pharmacol 2008, 154:1502-1507.
9. Thomas D., Karle C.A., Kiehn J. The cardiac hERG/IKr potassium channel as pharmacological target: structure, function, regulation, and clinical applications. Curr Pharm Des 2006, 12:2271-2283.
10. Kass R.S., Moss A.J. Mutation-specific pharmacology of the long QT syndrome. Handbook of experimental pharmacology 2006, 287-304.
11. Tester D.J., Will M.L., Ackerman M.J. Mutation detection in congenital long QT syndrome: cardiac channel gene screen using PCR, dHPLC, and direct DNA sequencing. Methods Mol Med 2006, 128:181-207.
12. Kapplinger J.D., Tester D.J., Salisbury B.A., Carr J.L., Harris-Kerr C., Pollevick G.D., et al. Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm 2009, 6:1297-1303.
13. Schwartz P.J., Ackerman M.J., George A.L., Wilde A.A. Impact of genetics on the clinical management of channelopathies. J Am Coll Cardiol 2013, 62:169-180.
14. Shimizu W., Aiba T., Antzelevitch C. Specific therapy based on the genotype and cellular mechanism in inherited cardiac arrhythmias. Long QT syndrome and Brugada syndrome. Curr Pharm Des 2005, 11:1561-1572.
15. Zhang L., Timothy K.W., Vincent G.M., Lehmann M.H., Fox J., Giuli L.C., et al. Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypes. Circulation 2000, 102:2849-2855.
16. Zareba W., Moss A.J., Schwartz P.J., Vincent G.M., Robinson J.L., Priori S.G., et al. 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.
17. Zhang L., Vincent G.M., Baralle M., Baralle F.E., Anson B.D., Benson D.W., et al. An intronic mutation causes long QT syndrome. J Am Coll Cardiol 2004, 44:1283-1291.
18. Brouwer J., Van Den Berg M.P., Grobbee D.E., Haaksma J., Wilde A.A.M. Diagnostic performance of various QTc interval formulas in a large family with long QT syndrome type 3: Bazett's formula not so bad after all. Ann Noninvasive Electrocardiol 2003, 8:269-274.
19. Gong Q., Zhang L., Vincent G.M., Horne B.D., Zhou Z. Nonsense mutations in hERG cause a decrease in mutant mRNA transcripts by nonsense-mediated mRNA decay in human long-QT syndrome. Circulation 2007, 116:17-24.
20. Bhuiyan Z.A., Momenah T.S., Gong Q., Amin A.S., Ghamdi S.A., Carvalho J.S., et al. Recurrent intrauterine fetal loss due to near absence of HERG: clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation. Heart Rhythm 2008, 5:553-561.
21. Gong Q., Stump M.R., Zhou Z. Position of premature termination codons determines susceptibility of hERG mutations to nonsense-mediated mRNA decay in long QT syndrome. Gene 2014, 539:190-197.
22. Islam M.M. The practice of consanguineous marriage in Oman: prevalence, trends and determinants. J Biosoc Sci 2012, 44:571-594.
23. Al Khabori M. Causes of severe to profound deafness in Omani paediatric population. Int J Pediatr Otorhinolaryngol 2004, 68:1307-1313.
24. Gong Q., Stump M.R., Zhou Z. Inhibition of nonsense-mediated mRNA decay by antisense morpholino oligonucleotides restores functional expression of hERG nonsense and frameshift mutations in long-QT syndrome. J Mol Cell Cardiol 2011, 50:223-229.
25. Clancy C.E., Rudy Y. Cellular consequences of HERG mutations in the long QT syndrome: precursors to sudden cardiac death. Cardiovasc Res 2001, 50:301-313.
26. Silver E.S., Liberman L., Chung W.K., Spotnitz H.M., Chen J.M., Ackerman M.J., et al. Long QT syndrome due to a novel mutation in SCN5A: treatment with ICD placement at 1month and left cardiac sympathetic denervation at 3months of age. J Interv Card Electrophysiol 2009, 26:41-45.
27. Valdivia C.R., Ackerman M.J., Tester D.J., Wada T., McCormack J., Ye B., et al. A novel SCN5A arrhythmia mutation, M1766L, with expression defect rescued by mexiletine. Cardiovasc Res 2002, 55:279-289.
28. Gao Y., Xue X., Hu D., Liu W., Yuan Y., Sun H., et al. Inhibition of late sodium current by mexiletine: a novel pharmotherapeutical approach in timothy syndrome. Circ Arrhythm Electrophysiol 2013, 6:614-622.
29. Itoh H., Shimizu W. Hayashi K et al. Long QT syndrome with compound mutations is associated with a more severe phenotype: A Japanese multicenter study. Heart Rhythm 2010, 7(10):1411-1418.
30. Nakashima K., Kusakawa I., Yamamoto T., Hirabayashi S., Hosoya R., Shimizu W., et al. A left ventricular noncompaction in a patient with long QT syndrome caused by a KCNQ1 mutation: a case report. Heart Vessels 2013, 28:126-129.
31. Ogawa K., Nakamura Y., Terano K., Ando T., Hishitani T., Hoshino K. Isolated non-compaction of the ventricular myocardium associated with long QT syndrome: a report of 2 cases. Circ J 2009, 73:2169-2172.
32. Shan L., Makita N., Xing Y., Watanabe S., Futatani T., Ye F., et al. SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia. Mol Genet Metab 2008, 93:468-474.
33. Zarraga I.G., Zhang L., Stump M.R., Gong Q., Vincent G.M., Zhou Z. Nonsense-mediated mRNA decay caused by a frameshift mutation in a large kindred of type 2 long QT syndrome. Heart Rhythm 2011, 8:1200-1206.