Identification of two variants in AGRN and RPL3L genes in a patient with
catecholaminergic polymorphic ventricular tachycardia suggesting new
candidate disease genes and digenic inheritance
Abstract
Catecholaminergic Polymorphic Ventricular Tachycardia is a
life-threatening disorder. The clinical diagnosis is challenging owing
to the absence of electrocardiogram and overt structural heart
abnormalities in the majority of patients. Approximately 35% of cases
remain without a genetic etiology. Here, we identified two genes as a
novel promising candidate for CPVT.