Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis.
Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis.
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DOI：
10.1161/circresaha.110.226845
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发表时间：
2011-04-01
影响因子：
20.1
通讯作者：
Chen SR
中科院分区：
文献类型：
--
作者：
Priori SG;Chen SR
儿茶酚胺能多形性室性心动过速（CPVT）是一种遗传性致心律失常疾病，发生在心脏结构正常的患者中：该疾病的特征是由压力和情绪引起的危及生命的心律失常。在2001年，兰尼碱受体被确定为与CPVT相关的基因;不久之后，心脏钙螯合蛋白与同一疾病的隐性形式有关。很明显，细胞内Ca 2+调节的异常可能会严重破坏心脏的电生理特性。在这篇文章中，我们将讨论疾病的分子基础和病理生理机制，影响临床诊断和受影响的个人管理。到目前为止，基础科学家和临床医生之间的相互作用，以了解CPVT和确定新的治疗策略是心脏病学转化研究重要性的最引人注目的例子之一。
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 after, cardiac calsequestrin was implicated in the recessive form of the same disease. It became clear that abnormalities in intracellular Ca2+ regulation could profoundly disrupt the electrophysiological properties of the heart. In this article we will 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.