KEGG   DISEASE: Catecholaminergic polymorphic ventricular tachycardia
Entry
H01019                      Disease                                
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
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Cardiac diseases
   H01019  Catecholaminergic polymorphic ventricular tachycardia
Human diseases in ICD-11 classification [BR:br08403]
 11 Diseases of the circulatory system
  Cardiac arrhythmia
   BC65  Cardiac arrhythmia associated with genetic disorder
    H01019  Catecholaminergic polymorphic ventricular tachycardia
Related
pathway
hsa04020  Calcium signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04371  Apelin signaling pathway
hsa04713  Circadian entrainment
hsa04024  cAMP signaling pathway
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]
Other DBs
ICD-11: BC65.5
ICD-10: I47.2
OMIM: 604772 611938 614021 614916 615441 618782
Reference
  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
Reference
  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
Reference
  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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
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