H01019 | |
H number | H01019 |
Name | Catecholaminergic polymorphic ventricular tachycardia |
Description | 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). |
Category | Cardiovascular disease |
Network | nt06528 Calcium signaling |
Gene | (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] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: BC65.5 ICD-10: I47.2 OMIM: 604772 611938 614021 614916 615441 618782 |
Reference | PMID:22119737 AUTHORS Pflaumer A, Davis AM TITLE Guidelines for the diagnosis and management of Catecholaminergic Polymorphic Ventricular Tachycardia. JOURNAL Heart Lung Circ 21:96-100 (2012) DOI:10.1016/j.hlc.2011.10.008 PMID:17497254 AUTHORS Liu N, Colombi B, Raytcheva-Buono EV, Bloise R, Priori SG TITLE Catecholaminergic polymorphic ventricular tachycardia. JOURNAL Herz 32:212-7 (2007) DOI:10.1007/s00059-007-2975-2 PMID:19068246 AUTHORS Katz G, Arad M, Eldar M TITLE Catecholaminergic polymorphic ventricular tachycardia from bedside to bench and beyond. JOURNAL Curr Probl Cardiol 34:9-43 (2009) DOI:10.1016/j.cpcardiol.2008.09.002 PMID:11208676 (RYR2) AUTHORS Priori SG, Napolitano C, Tiso N, Memmi M, Vignati G, Bloise R, Sorrentino V, Danieli GA TITLE Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. JOURNAL Circulation 103:196-200 (2001) DOI:10.1161/01.cir.103.2.196 PMID:11704930 (CASQ2) AUTHORS 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 TITLE 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. JOURNAL Am J Hum Genet 69:1378-84 (2001) DOI:10.1086/324565 PMID:27861123 (TECRL) AUTHORS 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 TITLE TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT. JOURNAL EMBO Mol Med 8:1390-1408 (2016) DOI:10.15252/emmm.201505719 PMID:23040497 (CALM1) AUTHORS 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 TITLE Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. JOURNAL Am J Hum Genet 91:703-12 (2012) DOI:10.1016/j.ajhg.2012.08.015 PMID:22422768 (TRDN) AUTHORS 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 TITLE Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human. JOURNAL Hum Mol Genet 21:2759-67 (2012) DOI:10.1093/hmg/dds104 PMID:27516456 (CALM3) AUTHORS 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 TITLE Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks. JOURNAL Circ Arrhythm Electrophysiol 9:e004161 (2016) DOI:10.1161/CIRCEP.116.004161 |