Ann Robinson reviews the latest research My dad died of a sudden cardiac arrest when he was 48 years old. His death, like many similar cases, was never really explained. One recently discovered cause of sudden death is a genetic arrhythmia syndrome called calcium release deficiency syndrome (CRDS). Could a new test identify CRDS before it presents as a sudden death? This multicentre case-control study found a unique repolarisation response on electrocardiography (T wave amplitude) to brief tachycardia and a pause in 10 patients with CRDS compared with controls, which could form the basis of a predictive test. The human findings were replicated in genetic mouse models and were caused by abnormally high release of calcium from the sarcoplasmic reticulum during systole. This was a small preliminary report from an ongoing DIAGNOSE CRDS study that will take years to complete. It offers the prospect …

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预测猝死……以及其他研究


安·罗宾逊 (Ann Robinson) 回顾最新研究 我的父亲在 48 岁时因心脏骤停去世。与许多类似的案件一样，他的死亡从未得到真正的解释。最近发现的猝死原因之一是遗传性心律失常综合征，称为钙释放缺乏综合征（CRDS）。新的测试能否在 CRDS 表现为猝死之前识别出它？这项多中心病例对照研究发现，与对照组相比，10 名 CRDS 患者的心电图（T 波振幅）对短暂心动过速和停顿有独特的复极反应，这可以构成预测测试的基础。人类的研究结果在基因小鼠模型中得到了复制，这是由于心脏收缩期间肌浆网异常大量释放钙引起的。这是正在进行的 DIAGNOSE CRDS 研究的一份小型初步报告，该研究需要数年时间才能完成。它提供了前景……