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catecholaminergic polymorphic ventricular tachycardia 3

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TECRL gene.
Uniprot Description An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, or sudden death after physical activity or emotional stress. CPVT3 is an autosomal recessive disorder with onset at early age and associated with sudden death in childhood. Patients manifest QT prolongation on adrenergic stimulation.
Mondo Term and Equivalent IDs
MONDO:0013529:  catecholaminergic polymorphic ventricular tachycardia 3
UMLS:C3151463: