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Catecholaminergic polymorphic ventricular tachycardia

ORPHA:3286DiseaseAutosomal dominant, Autosomal recessiveAdolescent, Adult, Childhood

Ассоциированные гены (7)

CASQ2
calsequestrin 2
Disease-causing germline mutation(s) in
OMIM: 114251
TRDN
triadin
Disease-causing germline mutation(s) in
OMIM: 603283
RYR2
ryanodine receptor 2
Disease-causing germline mutation(s) in
OMIM: 180902
CALM1
calmodulin 1
Disease-causing germline mutation(s) in
OMIM: 114180
CALM2
calmodulin 2
Candidate gene tested in
OMIM: 114182
CALM3
calmodulin 3
Candidate gene tested in
OMIM: 114183
TECRL
trans-2,3-enoyl-CoA reductase like
Disease-causing germline mutation(s) in
OMIM: 617242

Фенотипы (10)

Очень частый (80–99%)1
HP:0004756Ventricular tachycardia
Частый (30–79%)6
HP:0001695Cardiac arrest
HP:0001962Palpitations
HP:0002321Vertigo
HP:0004755Supraventricular tachycardia
HP:0005110Atrial fibrillation
HP:0031677Polymorphic ventricular tachycardia
Периодический (5–29%)3
HP:0001279Syncope
HP:0001645Sudden cardiac death
HP:0001663Ventricular fibrillation

Эпидемиология (1)

Point prevalence
1-5 / 10 000
Europe

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы