CPVT1

GPTKB entity

Statements (22)
Predicate Object
gptkbp:instanceOf genetic disorder
gptkbp:affects children
young adults
gptkbp:category gptkb:arrhythmia
channelopathy
gptkbp:firstDescribed 1995
gptkbp:fullName Catecholaminergic Polymorphic Ventricular Tachycardia type 1
https://www.w3.org/2000/01/rdf-schema#label CPVT1
gptkbp:inheritance autosomal dominant
gptkbp:mutationAssociatedWith gptkb:RYR2_gene
gptkbp:OMIM 604772
gptkbp:prevalence rare
gptkbp:symptom gptkb:ventricular_tachycardia
sudden cardiac death
syncope
gptkbp:treatment gptkb:implantable_cardioverter-defibrillator
beta-blockers
gptkbp:triggeredBy physical activity
emotional stress
gptkbp:bfsParent gptkb:Ryr2
gptkb:RYR2_gene
gptkbp:bfsLayer 8