Velcea Andreea Elena, Siliste Calin, Vinereanu Dragos
"Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania.
Maedica (Bucur). 2017 Dec;12(4):306-310.
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inheritable cardiac disorder, characterized by polymorphic ventricular tachycardia (PVT) or bidirectional ventricular tachycardia, triggered by adrenergic stress, and manifested most frequently as syncope or sudden cardiac death. The disease has a heterogeneous genetic basis, with mutations in the genes encoding the ryanodine and calsequestrin channels accounting for the majority of cases. The diagnosis of CPVT is established in individuals with polymorphic ventricular premature beats, PVT or bidirectional ventricular tachycardia documented during exercise or adrenergic stress, who have a structurally normal heart and normal resting ECG. Genetic testing completes the diagnosis, but is limited by the fact that, to date, about one third of cases are genotype-unknown. Treatment strategies have improved as the knowledge of the disease has evolved, and several therapeutic options are now available. They include pharmacologic measures (especially non-selective beta-blockers and flecainide), but also more complex interventions, such implantation of internal cardiac defibrillators and left cardiac sympathetic denervation. There are many unknowns to CPVT, but one that is essential to clinical practice is risk stratification, which will aid in a more targeted treatment of these patients. This goal is to be achieved by creating large patient registries and bio-banks, and ultimately by incorporating both clinical and genetic data into a risk stratification score.
儿茶酚胺能性多形性室性心动过速（CPVT）是一种罕见的遗传性心脏疾病，其特征为多形性室性心动过速（PVT）或双向性室性心动过速，由肾上腺素能应激诱发，最常见的表现为晕厥或心源性猝死。该疾病具有异质性遗传基础，编码兰尼碱受体和肌集钙蛋白通道的基因突变占大多数病例。CPVT的诊断基于在运动或肾上腺素能应激期间记录到多形性室性早搏、PVT或双向性室性心动过速，且心脏结构正常、静息心电图正常的个体。基因检测完善了诊断，但受限于目前约三分之一的病例基因型未知这一事实。随着对该疾病认识的发展，治疗策略有所改进，现在有多种治疗选择。包括药物措施（尤其是非选择性β受体阻滞剂和氟卡尼），还有更复杂的干预措施，如植入体内心脏除颤器和左心交感神经去神经术。CPVT有许多未知之处，但临床实践中至关重要的一点是风险分层，这将有助于对这些患者进行更有针对性的治疗。要通过建立大型患者登记库和生物样本库，并最终将临床和基因数据纳入风险分层评分来实现这一目标。
