Cardiac ryanodine receptor gene (hRyR2) mutation underlying catecholaminergic polymorphic ventricular tachycardia in a Chinese adolescent presenting with sudden cardiac arrest and cardiac syncope

摘要

Sudden cardiac death (SCD) in children and adolescents is uncommon and yet it is devastating for both victim's family and the society. Recently, it was increasingly recognized that SCD in young patients with structurally normal heart may be caused by inheritable primary electrical diseases due to the malfunction of cardiac ion channels, a disease entity known as the ion channelopathies. Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a specific form of ion channelopathy which can cause cardiac syncope or SCD in young patients by producing catecholamine-induced bi-directional ventricular tachycardia (BiVT), polymorphic VT and ventricular fibrillation (VF) during physical exertion or emotion.1'7 We reported here an index case of CPVT caused by cardiac ryanodine receptor gene (hRyR2) mutation which presented as cardiac syncope and sudden cardiac arrest in a Chinese adolescent female.