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儿茶酚胺敏感性多形性室性心动过速(catecholaminergicpolymorphicventriculartachycardia,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。
Catecholamine-sensitive polymorphic ventricular tachycardia (CPVT) is a rare genetic disorder that is associated with an imbalance in calcium homeostasis in cardiomyocytes caused by genetic mutations that can lead to fatal compartments with agitation or agitation Arrhythmia. Diagnosis of CPVT is based on adrenergic-induced bidirectional or polymorphic ventricular tachycardia, and some patients are diagnosed by genetic testing. Therapeutic effects of epinephrine on myocardial calcium homeostasis can be suppressed or blocked through internal and surgical methods. Inadequately treated patients have high rates of death and often sudden death as the first symptom. This article describes the new genetic discovery of CPVT and its impact on clinical management, and at the same time describes the limitations of genetic testing and the best application of cascade screening.