| H01019 | |
| H番号 | H01019 |
| 名称 | カテコールアミン誘発性多形性心室頻拍 |
| 概要 | Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a highly lethal form of inherited primary electrical myocardial disease characterized by exercise- and stress-related adrenergic ventricular tachycardia without structural cardiac abnormalities. It manifests as syncope and sudden death and can be caused by mutations in the cardiac ryanodine receptor gene (RYR2) accounting for an autosomal dominant form (CPVT1) or mutations in the cardiac calsequestrin gene CASQ2 accounting for an autosomal recessive form (CPVT2). |
| カテゴリ | 循環器系疾患 |
| ネットワーク | nt06528 Calcium signaling |
| 病因遺伝子 | (CPVT1) RYR2 [HSA:6262] [KO:K04962] (CPVT2) CASQ2 [HSA:845] [KO:K23445] (CPVT3) TECRL [HSA:253017] [KO:K24219] (CPVT4) CALM1 [HSA:801] [KO:K02183] (CPVT5) TRDN [HSA:10345] [KO:K23449] (CPVT6) 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: BC65.5 ICD-10: I47.2 OMIM: 604772 611938 614021 614916 615441 618782 |
| 文献 | PMID:22119737 著者 Pflaumer A, Davis AM タイトル Guidelines for the diagnosis and management of Catecholaminergic Polymorphic Ventricular Tachycardia. 雑誌 Heart Lung Circ 21:96-100 (2012) DOI:10.1016/j.hlc.2011.10.008 PMID:17497254 著者 Liu N, Colombi B, Raytcheva-Buono EV, Bloise R, Priori SG タイトル Catecholaminergic polymorphic ventricular tachycardia. 雑誌 Herz 32:212-7 (2007) DOI:10.1007/s00059-007-2975-2 PMID:19068246 著者 Katz G, Arad M, Eldar M タイトル Catecholaminergic polymorphic ventricular tachycardia from bedside to bench and beyond. 雑誌 Curr Probl Cardiol 34:9-43 (2009) DOI:10.1016/j.cpcardiol.2008.09.002 PMID:11208676 (RYR2) 著者 Priori SG, Napolitano C, Tiso N, Memmi M, Vignati G, Bloise R, Sorrentino V, Danieli GA タイトル Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. 雑誌 Circulation 103:196-200 (2001) DOI:10.1161/01.cir.103.2.196 PMID:11704930 (CASQ2) 著者 Lahat H, Pras E, Olender T, Avidan N, Ben-Asher E, Man O, Levy-Nissenbaum E, Khoury A, Lorber A, Goldman B, Lancet D, Eldar M タイトル A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel. 雑誌 Am J Hum Genet 69:1378-84 (2001) DOI:10.1086/324565 PMID:27861123 (TECRL) 著者 Devalla HD, Gelinas R, Aburawi EH, Beqqali A, Goyette P, Freund C, Chaix MA, Tadros R, Jiang H, Le Bechec A, Monshouwer-Kloots JJ, Zwetsloot T, Kosmidis G, Latour F, Alikashani A, Hoekstra M, Schlaepfer J, Mummery CL, Stevenson B, Kutalik Z, de Vries AA, Rivard L, Wilde AA, Talajic M, Verkerk AO, Al-Gazali L, Rioux JD, Bhuiyan ZA, Passier R タイトル TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT. 雑誌 EMBO Mol Med 8:1390-1408 (2016) DOI:10.15252/emmm.201505719 PMID:23040497 (CALM1) 著者 Nyegaard M, Overgaard MT, Sondergaard MT, Vranas M, Behr ER, Hildebrandt LL, Lund J, Hedley PL, Camm AJ, Wettrell G, Fosdal I, Christiansen M, Borglum AD タイトル Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. 雑誌 Am J Hum Genet 91:703-12 (2012) DOI:10.1016/j.ajhg.2012.08.015 PMID:22422768 (TRDN) 著者 Roux-Buisson N, Cacheux M, Fourest-Lieuvin A, Fauconnier J, Brocard J, Denjoy I, Durand P, Guicheney P, Kyndt F, Leenhardt A, Le Marec H, Lucet V, Mabo P, Probst V, Monnier N, Ray PF, Santoni E, Tremeaux P, Lacampagne A, Faure J, Lunardi J, Marty I タイトル Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human. 雑誌 Hum Mol Genet 21:2759-67 (2012) DOI:10.1093/hmg/dds104 PMID:27516456 (CALM3) 著者 Gomez-Hurtado N, Boczek NJ, Kryshtal DO, Johnson CN, Sun J, Nitu FR, Cornea RL, Chazin WJ, Calvert ML, Tester DJ, Ackerman MJ, Knollmann BC タイトル Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks. 雑誌 Circ Arrhythm Electrophysiol 9:e004161 (2016) DOI:10.1161/CIRCEP.116.004161 |