KEGG   DISEASE: H01019Help
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 hierarchy
Pathway
Calcium signaling pathway
Cardiac muscle contraction
Gene
(CPVT1) RYR2 [HSA:6262] [KO:K04962]
(CPVT2) CASQ2 [HSA:845]
GNAI2 [HSA:2771] [KO:K04630]
Drug
Beta-blockers (For primary manifestations)
Metoprolol (For secondary manifestations) [DR:D02358]
Anticoagulant
Other DBs
ICD-10: 
OMIM: 
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)
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)
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)
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)
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)

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