Cafferkey Aine, McMahon Cathy
From the Department of Intensive Care, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.
A A Pract. 2018 Aug 1;11(3):63-67. doi: 10.1213/XAA.0000000000000736.
We describe a case of refractory pulseless polymorphic ventricular tachycardia successfully treated with a bolus of propranolol intravenously, followed by an esmolol infusion and extracorporeal life support for 4 days in a 12-year-old boy later diagnosed with catecholaminergic polymorphic ventricular tachycardia. He had an excellent neurological outcome. Genetic testing for mutations associated with cardiac arrhythmias yielded a mutation of the syntrophin α-1 gene. The pathogenicity of this specific variant is uncertain. A mutation of this gene at a different locus is implicated in rare cases of long-QT syndrome. The patient subsequently underwent left cardiac sympathetic denervation followed by implantable cardiac defibrillator insertion. He remains symptom and arrhythmia free on atenolol.
我们描述了一例难治性无脉性多形性室性心动过速的病例，该病例发生在一名12岁男孩身上，他后来被诊断为儿茶酚胺能多形性室性心动过速，通过静脉推注普萘洛尔成功治疗，随后输注艾司洛尔并进行了4天的体外生命支持。他的神经功能预后良好。对与心律失常相关的突变进行基因检测，发现了肌养蛋白α-1基因的突变。这种特定变异的致病性尚不确定。该基因在不同位点的突变与罕见的长QT综合征病例有关。患者随后接受了左心交感神经切除术，随后植入了植入式心脏除颤器。他在服用阿替洛尔后仍无症状且未发生心律失常。
