catecholaminergic polymorphic ventricular tachycardia

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Information
Disease name
catecholaminergic polymorphic ventricular tachycardia
Disease ID
DOID:0060674
Description
"A heart conduction disease characterized by adrenergically induced ventricular tachycardia manifesting as syncope and sudden death during exercise, stress or catecholamine infusion without the presence of structural cardiac abnormalities." [url:https\://www.ncbi.nlm.nih.gov/books/NBK1289, url:https\://www.ncbi.nlm.nih.gov/pubmed/17875969]
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
KCNJ2 17 70,169,532 70,180,044 4
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT01117454 Completed N/A Flecainide for Catecholaminergic Polymorphic Ventricular Tachycardia December 2011 December 2015
NCT02927223 Completed N/A Atropine in Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) October 2016 February 2019
NCT04124237 Completed Long Term Monitoring for Risk of Sudden Death May 15, 2015 August 30, 2020
NCT04650009 Completed Physical Activity in Children With Inherited Cardiac Diseases May 1, 2020 February 1, 2021
NCT04712136 Completed N/A Healthy-related Quality of Life and Physical Activity of Children With Cardiac Malformations February 1, 2021 June 20, 2023
NCT05521451 Recruiting Clinical Cohort Study - TRUST March 17, 2021 December 31, 2031
NCT05687474 Recruiting Baby Detect : Genomic Newborn Screening September 1, 2022 August 31, 2025
Disase is a (Disease Ontology)
DOID:10273
Cross Reference ID (Disease Ontology)
ICD10CM:I47.2
Cross Reference ID (Disease Ontology)
MIM:PS604772
Cross Reference ID (Disease Ontology)
ORDO:3286
OrphaNumber from OrphaNet (Orphanet)
3286
MedGen concept unique identifier (MedGen Concept name)
C1631597
MedGen unique identifier (MedGen Concept name)
351513