Egan Kelly R, Ralphe J Carter, Weinhaus Larry, Maginot Kathleen R
University of Wisconsin School of Medicine and Public Health, 600 Highland Avenue, Madison, WI, USA.
Case Rep Pediatr. 2013;2013:736164. doi: 10.1155/2013/736164. Epub 2013 Feb 11.
An asymptomatic 5-year-old girl presented with bradycardia during a routine well-child visit. Further evaluation revealed profound sinus bradycardia, exercise-induced bidirectional ventricular tachycardia, and supraventricular tachycardia. An echocardiogram showed heavy trabeculations in the left ventricular myocardium. This patient's presentation suggested catecholaminergic polymorphic ventricular tachycardia and left ventricular noncompaction. Genetic testing revealed mutations in the cardiac ryanodine receptor (RyR2), calsequestron (CASQ2), and titin (TTN). She was effectively treated with beta-blockade to suppress tachyarrhythmias and pacemaker implantation to treat her bradycardia.
一名无症状的5岁女孩在常规儿童健康检查时出现心动过缓。进一步评估发现严重窦性心动过缓、运动诱发的双向室性心动过速和室上性心动过速。超声心动图显示左心室心肌有大量小梁形成。该患者的表现提示儿茶酚胺能多形性室性心动过速和左心室心肌致密化不全。基因检测发现心脏兰尼碱受体（RyR2）、肌浆网钙结合蛋白（CASQ2）和肌联蛋白（TTN）存在突变。她通过使用β受体阻滞剂有效抑制快速心律失常，并植入起搏器治疗心动过缓。
