Clinical and genetic analysis of long QT syndrome in children from six families in Saudi Arabia: Are they different?

Pediatric Cardiology

Volumn 30, Issue 4, 2009, Pages 490-501

  Bhuiyan, Zahurul A ^a   Al Shahrani, Safar ^b   Al Khadra, Ayman S ^c   Al Ghamdi, Saleh ^c   Al Khalaf, Khalaf ^c   Mannens, Marcel M A M ^a   Wilde, Arthur A M ^a   Momenah, Tarek S ^c  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b The General Directorate of Armed Forces Health Services   (Saudi Arabia)

^c PRINCE SULTAN CARDIAC CENTER   (Saudi Arabia)

Author keywords

Consanguinity; Founder mutation; Genetics; Long QT syndrome; Sudden cardiac death

Indexed keywords

ANTICONVULSIVE AGENT; ATENOLOL; PHENYTOIN; POTASSIUM CHANNEL KCNH2; POTASSIUM CHANNEL KCNQ1; PROPRANOLOL; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CONTROLLED STUDY; ELECTROCARDIOGRAM; FAMILY COUNSELING; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HAPLOTYPE; HEART ARRHYTHMIA; HUMAN; LONG QT SYNDROME; MALE; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PRESCHOOL CHILD; SAUDI ARABIA; SCHOOL CHILD; SEIZURE; SUDDEN DEATH; SYNCOPE; TONIC CLONIC SEIZURE;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; DEATH, SUDDEN, CARDIAC; FEMALE; HUMANS; INFANT; LONG QT SYNDROME; MALE; PEDIGREE; SAUDI ARABIA;

EID: 67349190240     PISSN: 01720643     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00246-008-9377-y     Document Type: Article

References (49)

1. L Al-Gazali H Hamamy S Al-Arrayad 2006 Genetic disorders in the Arab world BMJ 333 831 834 (Pubitemid 44629264)
2. H Bazett 1920 An analysis of the time relationships of electrocardiograms Heart 7 353 370
3. ZA Bhuiyan TS Momenah Q Gong AS Amin SA Ghamdi JS Carvalho T Homfray MM Mannens Z Zhou AA Wilde 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
4. Bhuiyan ZA, Momenah TS, Amin AS, Al-Khadra AS, Alders M, Wilde AA, Mannens MM (2008) An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome. Prog Biophys Mol Biol [Epub ahead of print]
5. Q Chen D Zhang RL Gingell AJ Moss C Napolitano SG Priori PJ Schwartz E Kehoe JL Robinson E Schulze-Bahr Q Wang JA Towbin 1999 Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome Circulation 99 1344 1347 (Pubitemid 29129920)
6. L Chen ML Marquardt DJ Tester KJ Sampson MJ Ackerman RS Kass 2007 Mutation of an A-kinase-anchoring protein causes long-QT syndrome Proc Natl Acad Sci USA 104 20990 20995
7. CU Choe E Schulze-Bahr A Neu J Xu ZI Zhu K Sauter R Bahring S Priori P Guicheney G Monnig C Neapolitano J Heidemann CE Clancy O Pongs D Isbrandt 2006 C-terminal HERG (LQT2) mutations disrupt IKr channel regulation through 14-3-3epsilon Hum Mol Genet 15 2888 2902 (Pubitemid 44446809)
8. LB Cronk B Ye T Kaku DJ Tester M Vatta JC Makielski MJ Ackerman 2007 Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3 Heart Rhythm 4 161 166 (Pubitemid 46158709)
9. L Crotti AL Lundquist R Insolia M Pedrazzini C Ferrandi GM De Ferrari A Vicentini P Yang DM Roden AL George Jr PJ Schwartz 2005 KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome Circulation 112 1251 1258 (Pubitemid 41266719)
10. L Crotti M Stramba-Badiale M Pedrazzini 2005 Prevalence of the long qt syndrome Circulation 112 suppl II abstr 3097
11. ME Curran I Splawski KW Timothy GM Vincent ED Green MT Keating 1995 A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome Cell 80 795 803
12. P Duggal MR Vesely D Wattanasirichaigoon J Villafane V Kaushik AH Beggs 1998 Mutation of the gene for IKs associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome Circulation 97 142 146 (Pubitemid 28124670)
13. MA El-Hazmi AR al-Swailem AS Warsy AM al-Swailem R Sulaimani AA al-Meshari 1995 Consanguinity among the Saudi Arabian population J Med Genet 32 623 626
14. MI El Mouzan AA Al Salloum AS Al Herbish MM Qurachi AA Al Omar 2008 Consanguinity and major genetic disorders in Saudi children: a community-based cross-sectional study Ann Saudi Med 28 169 173
15. Q Gong L Zhang GM Vincent BD Horne Z Zhou 2007 Nonsense mutations in hERG cause a decrease in mutant mRNA transcripts by nonsense-mediated mRNA decay in human long QT syndrome Circulation 116 17 24 (Pubitemid 47016242)
16. AP Gorgels F Al Fadley L Zaman MJ Kantoch Z Al Halees 1998 The long QT syndrome with impaired atrioventricular conduction: a malignant variant in infants J Cardiovasc Electrophysiol 9 1225 1232 (Pubitemid 28516152)
17. T Hoorntje M Alders P van Tintelen K van der Lip N Sreeram A van der Wal M Mannens A Wilde 1999 Homozygous premature truncation of the HERG protein: the human HERG knockout Circulation 100 1264 1267 (Pubitemid 29440116)
18. A Jervell F Lange-Nielsen 1957 Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death Am Heart J 54 59 68
19. WH Johnson Jr P Yang T Yang YR Lau BA Mostella DJ Wolff DM Roden DW Benson 2003 Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome Pediatr Res 53 744 748 (Pubitemid 36504715)
20. MJ Kantoch MM Qurashi ZR Bulbul AP Gorgels 1998 A newborn with a complex congenital heart disease, atrioventricular block, and torsade de pointes ventricular tachycardia Pacing Clin Electrophysiol 21 2664 2667 (Pubitemid 29031412)
21. LA Larsen I Fosdal PS Andersen JK Kanters J Vuust G Wettrell M Christiansen 1999 Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene Eur J Hum Genet 7 724 728 (Pubitemid 29424065)
22. JP Lees-Miller J Guo JR Somers DE Roach RS Sheldon DE Rancourt HJ Duff 2003 Selective knockout of mouse ERG1 B potassium channel eliminates I(Kr) in adult ventricular myocytes and elicits episodes of abrupt sinus bradycardia Mol Cell Biol 23 1856 1862 (Pubitemid 36278800)
23. SB Liggett S Cresci RJ Kelly FM Syed SJ Matkovich HS Hahn A Diwan JS Martini L Sparks RR Parekh JA Spertus WJ Koch SL Kardia GW Dorn 2nd 2008 GRK5 polymorphism that inhibits beta-adrenergic receptor signaling is protective in heart failure Nat Med 14 510 517
24. A Medeiros-Domingo T Kaku DJ Tester P Iturralde-Torres A Itty B Ye C Valdivia K Ueda S Canizales-Quinteros MT Tusié-Luna JC Makielski MJ Ackerman 2007 SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome Circulation 116 134 142 (Pubitemid 47057518)
25. DJ Milan TA Peterson JN Ruskin RT Peterson CA MacRae 2003 Drugs that induce repolarization abnormalities cause bradycardia in zebrafish Circulation 107 1355 1358 (Pubitemid 36350731)
26. AJ Moss W Zareba J Benhorin EH Locati WJ Hall JL Robinson PJ Schwartz JA Towbin GM Vincent MH Lehmann 1995 ECG T-wave patterns in genetically distinct forms of the hereditary long QT syndrome Circulation 92 2929 2934
27. N Neyroud F Tesson I Denjoy M Leibovici C Donger J Barhanin S Fauré F Gary P Coumel C Petit K Schwartz P Guicheney 1997 A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome Nat Genet 15 186 189 (Pubitemid 27061640)
28. T Novotny J Kadlecova J Janousek R Gaillyova A Bittnerova A Florianova M Sisakova O Toman K Chroust I Papousek J Spinar 2006 The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome Pacing Clin Electrophysiol 29 1013 1015 (Pubitemid 44392891)
29. K Piippo P Laitinen H Swan L Toivonen M Viitasalo M Pasternack K Paavonen H Chapman KT Wann E Hirvela A Sajantila K Kontula 2000 Homozygosity for a HERG potassium channel mutation causes a severe form of long QT syndrome: identification of an apparent founder mutation in the Finns J Am Coll Cardiol 35 1919 1925 (Pubitemid 30342876)
30. DR Piper WA Hinz CK Tallurri MC Sanguinetti M Tristani-Firouzi 2005 Regional specificity of human ether-a'-go-go-related gene channel activation and inactivation gating J Biol Chem 280 7206 7217 (Pubitemid 40341278)
31. SG Priori PJ Schwartz C Napolitano L Bianchi A Dennis M DeFusco AM Brown G Casari 1998 A recessive variant of the Romano-Ward long-QT syndrome? Circulation 97 2420 2425 (Pubitemid 28278186)
32. DM Roden 2008 Clinical practice. Long-QT syndrome N Engl J Med 358 169 176
33. MC Sanguinetti C Jiang ME Curran MT Keating 1995 A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel Cell 81 299 307
34. E Schulze-Bahr Q Wang H Wedekind W Haverkamp Q Chen Y Sun C Rubie M Hordt JA Towbin M Borggrefe G Assmann X Qu JC Somberg G Breithardt C Oberti H Funke 1997 KCNE1 mutations cause Jervell and Lange-Nielsen syndrome [letter] Nat Genet 17 267 268
35. PJ Schwartz SG Priori C Spazzolini AJ Moss GM Vincent C Napolitano I Denjoy P Guicheney G Breithardt MT Keating JA Towbin AH Beggs P Brink AA Wilde L Toivonen W Zareba JL Robinson KW Timothy V Corfield D Wattanasirichaigoon C Corbett W Haverkamp E Schulze-Bahr MH Lehmann K Schwartz P Coumel R Bloise 2001 Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias Circulation 103 89 95 (Pubitemid 32050441)
36. PJ Schwartz SG Priori M Cerrone C Spazzolini A Odero C Napolitano R Bloise GM De Ferrari C Klersy AJ Moss W Zareba JL Robinson WJ Hall PA Brink L Toivonen AE Epstein C Li D Hu 2004 Left cardiac sympathetic denervation in the management of high-risk patients affected by the long-QT syndrome Circulation 109 1826 1833 (Pubitemid 38509115)
37. R Seth AJ Moss S McNitt W Zareba ML Andrews M Qi JL Robinson I Goldenberg MJ Ackerman J Benhorin ES Kaufman EH Locati C Napolitano SG Priori PJ Schwartz JA Towbin GM Vincent L Zhang 2007 Long QT syndrome and pregnancy J Am Coll Cardiol 49 1092 1098 (Pubitemid 46349501)
38. B Singh SA al Shahwan MA Habbab SM al Deeb N Biary 1993 Idiopathic long QT syndrome: asking the right question Lancet 341 741 742 (Pubitemid 23085191)
39. I Splawski M Tristani-Firouzi MH Lehmann MC Sanguinetti MT Keating 1997 Mutations in the hminK gene cause long QT syndrome and suppress IKs function Nat Genet 17 338 340 (Pubitemid 27476001)
40. I Splawski J Shen KW Timothy MH Lehmann S Priori JL Robinson AJ Moss PJ Schwartz JA Towbin GM Vincent MT Keating 2000 Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2 Circulation 102 1178 1185
41. IM Van Langen E Birnie M Alders RJ Jongbloed H Le Marec AA Wilde 2003 The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome J Med Genet 40 141 145 (Pubitemid 36232821)
42. M Vatta MJ Ackerman B Ye JC Makielski EE Ughanze EW Taylor DJ Tester RC Balijepalli JD Foell Z Li TJ Kamp JA Towbin 2006 Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome Circulation 114 2104 2112
43. Q Wang J Shen I Splawski D Atkinson Z Li JL Robinson AJ Moss JA Towbin MT Keating 1995 SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome Cell 80 805 811
44. Q Wang ME Curran I Splawski TC Burn JM Millholland TJ VanRaay J Shen KW Timothy GM Vincent T de Jager PJ Schwartz JA Towbin AJ Moss DL Atkinson GM Landes TD Connors MT Keating 1996 Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias Nat Genet 12 17 23 (Pubitemid 26011314)
45. P Westenskow I Splawski KW Timothy MT Keating MC Sanguinetti 2004 Compound mutations: a common cause of severe long-QT syndrome Circulation 109 1834 1841 (Pubitemid 38509116)
46. AA Wilde RJ Jongbloed PA Doevendans DR Düren RN Hauer IM van Langen JP van Tintelen HJ Smeets H Meyer JL Geelen 1999 Auditory stimuli as a trigger for arrhythmic events differentiate HERG-related (LQTS2) patients from KVLQT1-related patients (LQTS1) J Am Coll Cardiol 33 327 332 (Pubitemid 29234193)
47. K Ueda C Valdivia A Medeiros-Domingo DJ Tester M Vatta G Farrugia MJ Ackerman JC Makielski 2008 Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex Proc Natl Acad Sci USA 105 9355 9360
48. W Zareba AJ Moss 2001 Long QT syndrome in children J Electrocardiol 34 suppl 167 171
49. L Zhang KW Timothy GM Vincent MH Lehmann J Fox LC Giuli J Shen I Splawski SG Priori SJ Compton F Yanowitz J Benhorin AJ Moss PJ Schwartz JL Robinson Q Wang W Zareba MT Keating JA Towbin C Napolitano A Medina 2000 Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypes Circulation 102 2849 2855