H00720 | |
H number | H00720 |
Name | Long QT syndrome |
Description | Long QT syndrome (LQTS) is a cardiovascular disorder resulting from mutations in cardiac ion channels. LQTS is characterized by prolongation of the QT interval in the electrocardiogram (ECG) and a propensity to torsades de pointes ventricular tachycardia frequently leading to syncope, cardiac arrest, or sudden death usually in young otherwise healthy individuals. Anesthesia in a patient with LQTS can trigger malignant arrhythmias and is therefore a high-risk procedure. There are two well-known syndromes with a long QT interval. The Romano-Ward syndrome is characterized by an autosomal-dominant inheritance without familial deafness. The Jervell and Lange-Nielsen syndrome (JLNS) has an autosomal-recessive pattern of inheritance and is associated with deafness. |
Category | Cardiovascular disease |
Network | nt06528 Calcium signaling |
Gene | (LQT1) KCNQ1 [HSA:3784] [KO:K04926] (LQT2) KCNH2 [HSA:3757] [KO:K04905] (LQT3) SCN5A [HSA:6331] [KO:K04838] (LQT4) ANK2 [HSA:287] [KO:K10380] (LQT5) KCNE1 [HSA:3753] [KO:K04894] (LQT6) KCNE2 [HSA:9992] [KO:K04896] (LQT7) KCNJ2 [HSA:3759] [KO:K04996] (LQT8) CACNA1C [HSA:775] [KO:K04850] (LQT9) CAV3 [HSA:859] [KO:K12959] (LQT10) SCN4B [HSA:6330] [KO:K04848] (LQT11) AKAP9 [HSA:10142] [KO:K16551] (LQT12) SNTA1 [HSA:6640] [KO:K24063] (LQT13) KCNJ5 [HSA:3762] [KO:K04999] (LQT14) CALM1 [HSA:801] [KO:K02183] (LQT15) CALM2 [HSA:805] [KO:K02183] (LQT16) CALM3 [HSA:808] [KO:K02183] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: BC65.0 ICD-10: I45.81 OMIM: 192500 613688 603830 600919 613695 613693 170390 618447 601005 611818 611819 611820 612955 613485 220400 616247 616249 612347 618782 |
Reference | PMID:21286418 AUTHORS Kim HT, Lee JH, Park IB, Heo HE, Kim TY, Lee MJ TITLE Long QT syndrome provoked by induction of general anesthesia -A case report-. JOURNAL Korean J Anesthesiol 59 Suppl:S114-8 (2010) DOI:10.4097/kjae.2010.59.S.S114 PMID:19026859 AUTHORS Zareba W, Cygankiewicz I TITLE Long QT syndrome and short QT syndrome. JOURNAL Prog Cardiovasc Dis 51:264-78 (2008) DOI:10.1016/j.pcad.2008.10.006 PMID:16409532 AUTHORS Saussine M, Massad I, Raczka F, Davy JM, Frapier JM TITLE Torsade de pointes during sevoflurane anesthesia in a child with congenital long QT syndrome. JOURNAL Paediatr Anaesth 16:63-5 (2006) DOI:10.1111/j.1460-9592.2005.01593.x PMID:10593671 AUTHORS Ilhan A, Tuncer C, Komsuoglu SS, Kali S TITLE Jervell and Lange-Nielsen syndrome: neurologic and cardiologic evaluation. JOURNAL Pediatr Neurol 21:809-13 (1999) DOI:10.1016/S0887-8994(99)00100-9 PMID:8528244 (LQT1) AUTHORS 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 TITLE Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. JOURNAL Nat Genet 12:17-23 (1996) DOI:10.1038/ng0196-17 PMID:7889573 (LQT2) AUTHORS Curran ME, Splawski I, Timothy KW, Vincent GM, Green ED, Keating MT TITLE A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. JOURNAL Cell 80:795-803 (1995) DOI:10.1016/0092-8674(95)90358-5 PMID:8541846 (LQT3) AUTHORS Wang Q, Shen J, Li Z, Timothy K, Vincent GM, Priori SG, Schwartz PJ, Keating MT TITLE Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. JOURNAL Hum Mol Genet 4:1603-7 (1995) DOI:10.1093/hmg/4.9.1603 PMID:12571597 (LQT4) AUTHORS Mohler PJ, Schott JJ, Gramolini AO, Dilly KW, Guatimosim S, duBell WH, Song LS, Haurogne K, Kyndt F, Ali ME, Rogers TB, Lederer WJ, Escande D, Le Marec H, Bennett V TITLE Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. JOURNAL Nature 421:634-9 (2003) DOI:10.1038/nature01335 PMID:9354802 (LQT5) AUTHORS Splawski I, Tristani-Firouzi M, Lehmann MH, Sanguinetti MC, Keating MT TITLE Mutations in the hminK gene cause long QT syndrome and suppress IKs function. JOURNAL Nat Genet 17:338-40 (1997) DOI:10.1038/ng1197-338 PMID:10219239 (LQT6) AUTHORS Abbott GW, Sesti F, Splawski I, Buck ME, Lehmann MH, Timothy KW, Keating MT, Goldstein SA TITLE MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. JOURNAL Cell 97:175-87 (1999) DOI:10.1016/S0092-8674(00)80728-X PMID:11371347 (LQT7) AUTHORS Plaster NM, Tawil R, Tristani-Firouzi M, Canun S, Bendahhou S, Tsunoda A, Donaldson MR, Iannaccone ST, Brunt E, Barohn R, Clark J, Deymeer F, George AL Jr, Fish FA, Hahn A, Nitu A, Ozdemir C, Serdaroglu P, Subramony SH, Wolfe G, Fu YH, Ptacek LJ TITLE Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. JOURNAL Cell 105:511-9 (2001) DOI:10.1016/s0092-8674(01)00342-7 PMID:23677916 (LQT8) AUTHORS Boczek NJ, Best JM, Tester DJ, Giudicessi JR, Middha S, Evans JM, Kamp TJ, Ackerman MJ TITLE Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome. JOURNAL Circ Cardiovasc Genet 6:279-89 (2013) DOI:10.1161/CIRCGENETICS.113.000138 PMID:17060380 (LQT9) AUTHORS Vatta M, Ackerman MJ, Ye B, Makielski JC, Ughanze EE, Taylor EW, Tester DJ, Balijepalli RC, Foell JD, Li Z, Kamp TJ, Towbin JA TITLE Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. JOURNAL Circulation 114:2104-12 (2006) DOI:10.1161/CIRCULATIONAHA.106.635268 PMID:17592081 (LQT10) AUTHORS Medeiros-Domingo A, Kaku T, Tester DJ, Iturralde-Torres P, Itty A, Ye B, Valdivia C, Ueda K, Canizales-Quinteros S, Tusie-Luna MT, Makielski JC, Ackerman MJ TITLE SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. JOURNAL Circulation 116:134-42 (2007) DOI:10.1161/CIRCULATIONAHA.106.659086 PMID:18093912 (LQT11) AUTHORS Chen L, Marquardt ML, Tester DJ, Sampson KJ, Ackerman MJ, Kass RS TITLE Mutation of an A-kinase-anchoring protein causes long-QT syndrome. JOURNAL Proc Natl Acad Sci U S A 104:20990-5 (2007) DOI:10.1073/pnas.0710527105 PMID:18591664 (LQT12) AUTHORS Ueda K, Valdivia C, Medeiros-Domingo A, Tester DJ, Vatta M, Farrugia G, Ackerman MJ, Makielski JC TITLE Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. JOURNAL Proc Natl Acad Sci U S A 105:9355-60 (2008) DOI:10.1073/pnas.0801294105 PMID:20560207 (LQT13) AUTHORS Yang Y, Yang Y, Liang B, Liu J, Li J, Grunnet M, Olesen SP, Rasmussen HB, Ellinor PT, Gao L, Lin X, Li L, Wang L, Xiao J, Liu Y, Liu Y, Zhang S, Liang D, Peng L, Jespersen T, Chen YH TITLE Identification of a Kir3.4 mutation in congenital long QT syndrome. JOURNAL Am J Hum Genet 86:872-80 (2010) DOI:10.1016/j.ajhg.2010.04.017 PMID:23388215 (LQT14 LQT15) AUTHORS Crotti L, Johnson CN, Graf E, De Ferrari GM, Cuneo BF, Ovadia M, Papagiannis J, Feldkamp MD, Rathi SG, Kunic JD, Pedrazzini M, Wieland T, Lichtner P, Beckmann BM, Clark T, Shaffer C, Benson DW, Kaab S, Meitinger T, Strom TM, Chazin WJ, Schwartz PJ, George AL Jr TITLE Calmodulin mutations associated with recurrent cardiac arrest in infants. JOURNAL Circulation 127:1009-17 (2013) DOI:10.1161/CIRCULATIONAHA.112.001216 PMID:25460178 (LQT16) AUTHORS Reed GJ, Boczek NJ, Etheridge SP, Ackerman MJ TITLE CALM3 mutation associated with long QT syndrome. JOURNAL Heart Rhythm 12:419-22 (2015) DOI:10.1016/j.hrthm.2014.10.035 |