KEGG   DISEASE: Catecholaminergic polymorphic ventricular tachycardiaHelp
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). It was also reported that absence of the inhibitory G-Protein Galphai2 predisposes to ventricular tachycardia.
Category
Cardiovascular disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Cardiac diseases
   H01019  Catecholaminergic polymorphic ventricular tachycardia
Human diseases in ICD-10 classification [BR:br08403]
 9. Diseases of the circulatory system (I00-I99)
  I30-I52  Other forms of heart disease
   I47  Paroxysmal tachycardia
    H01019  Catecholaminergic polymorphic ventricular tachycardia
BRITE hierarchy
Pathway
Calcium signaling pathway
Cardiac muscle contraction
Gene
(CPVT1) RYR2 [HSA:6262] [KO:K04962]
(CPVT2) CASQ2 [HSA:845]
GNAI2 [HSA:2771] [KO:K04630]
(CPVT4) CALM1 [HSA:801] [KO:K02183]
(CPVT5) TRDN [HSA:10345]
Drug
Beta-blockers (For primary manifestations)
Metoprolol (For secondary manifestations) [DG:DG00313]
Anticoagulant
Other DBs
Reference
PMID:22119737 (description, gene)
  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
(1993)
Reference
PMID:17497254 (description, gene)
  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
PMID:19068246 (description, gene)
  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:15176428 (description, gene)
  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
Zuberi Z, Nobles M, Sebastian S, Dyson A, Lim SY, Breckenridge R, Birnbaumer L, Tinker A
  Title
Absence of the inhibitory G-protein Galphai2 predisposes to ventricular cardiac arrhythmia.
  Journal
Circ Arrhythm Electrophysiol 3:391-400 (2010)
DOI:10.1161/CIRCEP.109.894329
Reference
PMID:23040497 (gene)
  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 (gene)
  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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