儿茶酚胺敏感性多形性室性心动过速基因特异性管理

儿茶酚胺敏感性多形性室性心动过速(catecholaminergic polymorphic ventricular tachycardia，CPVT)是一种罕见的遗传性疾病，与基因突变导致的心肌细胞内钙稳态的失衡有关，运动或情绪激动可诱发致命性的室性心律失常。CPVT的诊断基于肾上腺素引起的双向性或多形性室性心动过速，部分患者通过基因检测确诊。在治疗上可通过内、外科方法，抑制或阻断肾上腺素对心肌钙稳态的影响。未正规治疗的患者死亡率高，且猝死常为首发症状。文章阐述CPVT的遗传学新发现及其对临床管理的影响，同时阐述基因检测的局限性和级联筛查的最佳应用。

An update on the gene-specific management of catecholaminergic polymorphic ventricular tachycardia.

Abstract：Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited arrhythmia syndrome caused by mutations in genes involved in the intracellular calcium homeostasis of cardiac cells.Affected patients typically present with life-threatening ventricular arrhythmias precipitated by emotional/physical stress.The CPVT diagnosis is based on reproducible tachyarrhythmias including polymorphic and bidirectional ventricular tachycardia associated with adrenergic stress.Genetic testing can be confirmatory in some patients.Treatments for CPVT include medical and surgical efforts to suppress the effects of epinephrine at the myocardial level and/or modulation of calcium homeostasis.Mortality is high when untreated and sudden cardiac death may be the first manifestation of this disease.This review presents updated genetic discoveries and their impact on clinical management of CPVT，and also addresses the limitation of genetic testing and the optimal use of cascade screening.