| H00720 | |
| H番号 | H00720 |
| 名称 | QT 延長症候群 |
| 概要 | 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. |
| カテゴリ | 循環器系疾患 |
| ネットワーク | nt06528 Calcium signaling |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | 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 |
| 文献 | PMID:21286418 著者 Kim HT, Lee JH, Park IB, Heo HE, Kim TY, Lee MJ タイトル Long QT syndrome provoked by induction of general anesthesia -A case report-. 雑誌 Korean J Anesthesiol 59 Suppl:S114-8 (2010) DOI:10.4097/kjae.2010.59.S.S114 PMID:19026859 著者 Zareba W, Cygankiewicz I タイトル Long QT syndrome and short QT syndrome. 雑誌 Prog Cardiovasc Dis 51:264-78 (2008) DOI:10.1016/j.pcad.2008.10.006 PMID:16409532 著者 Saussine M, Massad I, Raczka F, Davy JM, Frapier JM タイトル Torsade de pointes during sevoflurane anesthesia in a child with congenital long QT syndrome. 雑誌 Paediatr Anaesth 16:63-5 (2006) DOI:10.1111/j.1460-9592.2005.01593.x PMID:10593671 著者 Ilhan A, Tuncer C, Komsuoglu SS, Kali S タイトル Jervell and Lange-Nielsen syndrome: neurologic and cardiologic evaluation. 雑誌 Pediatr Neurol 21:809-13 (1999) DOI:10.1016/S0887-8994(99)00100-9 PMID:8528244 (LQT1) 著者 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 タイトル Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. 雑誌 Nat Genet 12:17-23 (1996) DOI:10.1038/ng0196-17 PMID:7889573 (LQT2) 著者 Curran ME, Splawski I, Timothy KW, Vincent GM, Green ED, Keating MT タイトル A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. 雑誌 Cell 80:795-803 (1995) DOI:10.1016/0092-8674(95)90358-5 PMID:8541846 (LQT3) 著者 Wang Q, Shen J, Li Z, Timothy K, Vincent GM, Priori SG, Schwartz PJ, Keating MT タイトル Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. 雑誌 Hum Mol Genet 4:1603-7 (1995) DOI:10.1093/hmg/4.9.1603 PMID:12571597 (LQT4) 著者 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 タイトル Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. 雑誌 Nature 421:634-9 (2003) DOI:10.1038/nature01335 PMID:9354802 (LQT5) 著者 Splawski I, Tristani-Firouzi M, Lehmann MH, Sanguinetti MC, Keating MT タイトル Mutations in the hminK gene cause long QT syndrome and suppress IKs function. 雑誌 Nat Genet 17:338-40 (1997) DOI:10.1038/ng1197-338 PMID:10219239 (LQT6) 著者 Abbott GW, Sesti F, Splawski I, Buck ME, Lehmann MH, Timothy KW, Keating MT, Goldstein SA タイトル MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. 雑誌 Cell 97:175-87 (1999) DOI:10.1016/S0092-8674(00)80728-X PMID:11371347 (LQT7) 著者 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 タイトル Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. 雑誌 Cell 105:511-9 (2001) DOI:10.1016/s0092-8674(01)00342-7 PMID:23677916 (LQT8) 著者 Boczek NJ, Best JM, Tester DJ, Giudicessi JR, Middha S, Evans JM, Kamp TJ, Ackerman MJ タイトル Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome. 雑誌 Circ Cardiovasc Genet 6:279-89 (2013) DOI:10.1161/CIRCGENETICS.113.000138 PMID:17060380 (LQT9) 著者 Vatta M, Ackerman MJ, Ye B, Makielski JC, Ughanze EE, Taylor EW, Tester DJ, Balijepalli RC, Foell JD, Li Z, Kamp TJ, Towbin JA タイトル Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. 雑誌 Circulation 114:2104-12 (2006) DOI:10.1161/CIRCULATIONAHA.106.635268 PMID:17592081 (LQT10) 著者 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 タイトル SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. 雑誌 Circulation 116:134-42 (2007) DOI:10.1161/CIRCULATIONAHA.106.659086 PMID:18093912 (LQT11) 著者 Chen L, Marquardt ML, Tester DJ, Sampson KJ, Ackerman MJ, Kass RS タイトル Mutation of an A-kinase-anchoring protein causes long-QT syndrome. 雑誌 Proc Natl Acad Sci U S A 104:20990-5 (2007) DOI:10.1073/pnas.0710527105 PMID:18591664 (LQT12) 著者 Ueda K, Valdivia C, Medeiros-Domingo A, Tester DJ, Vatta M, Farrugia G, Ackerman MJ, Makielski JC タイトル Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. 雑誌 Proc Natl Acad Sci U S A 105:9355-60 (2008) DOI:10.1073/pnas.0801294105 PMID:20560207 (LQT13) 著者 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 タイトル Identification of a Kir3.4 mutation in congenital long QT syndrome. 雑誌 Am J Hum Genet 86:872-80 (2010) DOI:10.1016/j.ajhg.2010.04.017 PMID:23388215 (LQT14 LQT15) 著者 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 タイトル Calmodulin mutations associated with recurrent cardiac arrest in infants. 雑誌 Circulation 127:1009-17 (2013) DOI:10.1161/CIRCULATIONAHA.112.001216 PMID:25460178 (LQT16) 著者 Reed GJ, Boczek NJ, Etheridge SP, Ackerman MJ タイトル CALM3 mutation associated with long QT syndrome. 雑誌 Heart Rhythm 12:419-22 (2015) DOI:10.1016/j.hrthm.2014.10.035 |