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]
Other DBs
ICD-11: BC65.5
ICD-10: I47.2
OMIM: 604772 611938 614021 614916 615441
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
PMID:20301466 (description, gene, drug)
  Authors
Napolitano C, Priori SG, Bloise R
  Title
Catecholaminergic Polymorphic Ventricular Tachycardia
  Journal
GeneReviews (1993)
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
  Authors
Laitinen PJ, Swan H, Piippo K, Viitasalo M, Toivonen L, Kontula K
  Title
Genes, exercise and sudden death: molecular basis of familial catecholaminergic polymorphic ventricular tachycardia.
  Journal
Ann Med 36 Suppl 1:81-6 (2004)
DOI:10.1080/17431380410032599
Reference
  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
  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
  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
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