A novel RyR2 mutation in a 2-year-old baby presenting with atrial fibrillation, atrial flutter, and atrial ectopic tachycardia

摘要

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmogenic disorder characterized by the development of polymorphic ventricular tachyarrhythmias induced by exercise or emotional stress without any detectable morphologic abnormalities of the heart. Mutations in genes encoding cardiac ryanodine receptor 2 (RyR2) and calsequestrin 2 (CASQ2) have been identified in several patients and are recognized as causing the autosomal dominant and recessive forms of CPVT, respectively.2 In its typical presentation, CPVT is characterized by the occurrence of syncopal episodes triggered by physical exercise or psychological stress; in rare instances sudden cardiac death may be the first manifestation of the disease. The standard ECG is normal, and diagnosis usually is made during an exercise stress test that reproduces a typical pattern of polymorphic or bidirectional ventricular tachycardia.