Scheinman Melvin M, Lam Jason
Department of Medicine, University of California San Francisco, San Francisco, California 94143, USA.
Annu Rev Med. 2006;57:473-84. doi: 10.1146/annurev.med.57.081704.090151.
We review the clinical and genetic disorders associated with exercise-induced ventricular arrhythmias in patients with normal hearts. Foremost are those with catecholaminergic polymorphic ventricular tachycardia due to abnormalities in either the ryanodine receptor 2 genes (RyR2) or the calsequestrin genes (CASQ). These patients manifest ventricular premature beats and polymorphic ventricular tachycardia in response to exercise or on exposure to catecholamines. A great deal of basic information has been accumulated suggesting that these arrhythmias are caused by abnormalities in Ca2+ metabolism. The ensuing cytosolic Ca2+ overload results in delayed after-depolarizations and extrasystolic Ca2+ waves, leading to polymorphic ventricular tachycardia. Most of these patients will respond to beta-blocker therapy but a significant minority (30%) will require a defibrillator. Advances in genetic testing allow better understanding of this syndrome.
我们回顾了与正常心脏患者运动诱发室性心律失常相关的临床和遗传疾病。首先是那些因兰尼碱受体2基因（RyR2）或肌集钙蛋白基因（CASQ）异常而患有儿茶酚胺能多形性室性心动过速的患者。这些患者在运动或接触儿茶酚胺时会出现室性早搏和多形性室性心动过速。大量基础信息表明，这些心律失常是由Ca2+代谢异常引起的。随之而来的胞质Ca2+过载导致延迟后去极化和期前收缩Ca2+波，进而引发多形性室性心动过速。这些患者中的大多数对β受体阻滞剂治疗有反应，但少数（30%）患者需要植入除颤器。基因检测的进展有助于更好地理解这一综合征。
