Molecular Cardiology Laboratories, IRCCS Fondazione Salvatore Maugeri, Via Maugeri 10/10A, Pavia, Italy.
Circ Res. 2011 Apr 1;108(7):871-83. doi: 10.1161/CIRCRESAHA.110.226845.
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmogenic disease occurring in patients with a structurally normal heart: the disease is characterized by life-threatening arrhythmias elicited by stress and emotion. In 2001, the ryanodine receptor was identified as the gene that is linked to CPVT; shortly thereafter, cardiac calsequestrin was implicated in the recessive form of the same disease. It became clear that abnormalities in intracellular Ca(2+) regulation could profoundly disrupt the electrophysiological properties of the heart. In this article, we discuss the molecular basis of the disease and the pathophysiological mechanisms that are impacting clinical diagnosis and management of affected individuals. As of today, the interaction between basic scientists and clinicians to understand CPVT and identify new therapeutic strategies is one of the most compelling examples of the importance of translational research in cardiology.
儿茶酚胺多形性室性心动过速（CPVT）是一种发生于结构正常心脏患者的遗传性心律失常性疾病：该疾病的特征是由应激和情绪引发的危及生命的心律失常。2001 年，Ryanodine 受体被确定为与 CPVT 相关的基因；此后不久，心脏肌浆网钙结合蛋白被牵连到同种疾病的隐性形式中。很明显，细胞内 Ca(2+) 调节异常会严重破坏心脏的电生理特性。在本文中，我们讨论了该疾病的分子基础以及影响受影响个体临床诊断和管理的病理生理机制。截至今日，基础科学家与临床医生合作理解 CPVT 并确定新的治疗策略，是心脏病学中转译研究重要性的最引人注目的例子之一。
