Leren Ida Skrinde, Haugaa Kristina Hermann, Edvardsen Thor, Anfinsen Ole-Gunnar, Kongsgård Erik, Berge Knut Erik, Leren Trond P, Amlie Jan P
Det medisinske fakultet, Universitetet i Oslo, Norway.
Tidsskr Nor Laegeforen. 2010 Jan 28;130(2):139-42. doi: 10.4045/tidsskr.09.0529.
CPVT (catecholaminergic polymorphic ventricular tachycardia) is a condition characterized by syncopes and cardiac arrest that was first described in 1975. CPVT has later been classified as a genetic disease with a great risk for life-threatening arrhythmias that are mainly caused by mutations in the ryanodine receptor 2 gene. Starting with a case report, we present an overview of CPVT.
The literature reviewed was identified through a non-systematic search in PubMed.
Diagnosing CPVT may be difficult, as resting ECG is normal and the syncopes may be misdiagnosed as epilepsy. Information about syncopes related to physical or emotional stress and occurrence of unexplained syncopes or cardiac arrest among family members, is important in the diagnostic evaluation. An exercise stress test often reveals the classical pattern of ventricular arrhythmias at heart rates above 100 beats/min. The diagnosis can be confirmed by genetic testing. By beta-blocker treatment and, if necessary, an ICD (implantable cardioverter defibrillator) the prognosis can be improved.
CPVT is a serious disease with a poor prognosis when left untreated. It is a rare but important differential diagnosis in young individuals with syncopes or cardiac arrest. Genetic screening of relatives has made it possible to identify mutation carriers in affected families in order to provide them with preventive therapy.
儿茶酚胺能多形性室性心动过速（CPVT）是一种以晕厥和心脏骤停为特征的疾病，于1975年首次被描述。CPVT后来被归类为一种遗传性疾病，具有发生危及生命的心律失常的高风险，主要由兰尼碱受体2基因突变引起。从一个病例报告开始，我们对CPVT进行概述。
通过在PubMed上进行非系统检索来确定所综述的文献。
诊断CPVT可能很困难，因为静息心电图正常，晕厥可能被误诊为癫痫。在诊断评估中，与身体或情绪应激相关的晕厥信息以及家庭成员中不明原因晕厥或心脏骤停的发生情况很重要。运动应激试验通常会在心率超过100次/分钟时显示出典型的室性心律失常模式。诊断可以通过基因检测来确认。通过β受体阻滞剂治疗，必要时植入植入式心脏复律除颤器（ICD），可以改善预后。
CPVT是一种严重的疾病，若不治疗预后较差。它在有晕厥或心脏骤停的年轻个体中是一种罕见但重要的鉴别诊断。对亲属进行基因筛查使得识别受影响家庭中的突变携带者成为可能，以便为他们提供预防性治疗。
