Department of Pediatrics, Division of Cardiology, BC Children's Hospital, Heart Center, 4480 Oak Street, Vancouver, British Columbia V6H 3V4, Canada. Electronic address: https://twitter.com/Daniakallas2.
Population Health Research Institute, McMaster University and Hamilton Health Sciences, C3-111, 237 Barton Street East, Hamilton, Ontario L8L 2X2, Canada.
Card Electrophysiol Clin. 2023 Sep;15(3):319-329. doi: 10.1016/j.ccep.2023.05.003. Epub 2023 Jun 20.
Calcium release deficiency syndrome (CRDS) is a newly described form of inherited arrhythmia caused by damaging loss-of-function variants in the cardiac ryanodine receptor (RyR2). Unlike the prototypical RyR2 gain-of-function channelopathy, known as catecholaminergic polymorphic ventricular tachycardia, patients with CRDS are predisposed to sudden death usually in the absence of any electrical abnormalities at rest or during stress electrocardiography. This makes diagnosis incredibly challenging, however, an invasive electrophysiologic test appears to be effective in unmasking the phenotype, called the long-burst, long-pause, short-coupled ventricular extra-stimulus protocol. Optimal therapies for patients with CRDS remain unestablished, although flecainide appears to be a promising candidate drug.
钙释放缺陷综合征（CRDS）是一种新描述的遗传性心律失常形式，由心脏兰尼碱受体（RyR2）的破坏性失活变异引起。与典型的 RyR2 功能获得性通道病，即儿茶酚胺多形性室性心动过速不同，CRDS 患者易发生猝死，通常在静息或应激心电图检查时无任何电异常。这使得诊断极具挑战性，然而，侵入性电生理测试似乎可以有效地揭示表型，称为长爆发、长停顿、短耦联室性额外刺激方案。尽管氟卡尼似乎是一种很有前途的候选药物，但 CRDS 患者的最佳治疗方法仍未确定。
