Catecholaminergic polymorphic ventricular tachycardia due to de novo RyR2 mutation: recreational cycling as a trigger of lethal arrhythmias

摘要

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an uncommon arrhythmogenic disorder characterized by adrenergic-induced bidirectional and polymorphic VT occurring in young patients with a structurally normal heart [ – ]. Although the actual prevalence of CPVT is unknown, it is estimated at 1 : 10,000 [ ]. We present the case of a 12-year-old girl suffering multiple falls while cycling finally diagnosed with CPVT and found to be heterozygous for a pathogenic gene mutation. She did not have a family history of syncope or sudden cardiac death and was referred because of suffering multiple falls and minor trauma while riding her bicycle starting at age 8 years. Initially, her parents attributed the falls to inexperience but sought medical assistance when tonic movements of both arms occurred during one of the falls. The first clinical diagnosis was epilepsy, and, without further studies, she was treated with magnesium valproate for 6 months without clinical improvement. Due to the lack of response and the correlation of falls with exercise she was referred for evaluation to the Electrophysiology Department of the Hospital General Naval de Alta Especialidad.