Tester David J, Ackerman Michael J
Department of Medicine, Mayo Clinic College of Medicine, United States.
Cardiovasc Res. 2005 Aug 15;67(3):388-96. doi: 10.1016/j.cardiores.2005.02.013.
Having an apparently healthy, thriving infant fail to reach his/her first birthday is profoundly tragic. This tragedy is compounded when the infant's death is unexpected and unexplained, signed out as sudden infant death syndrome (SIDS). Despite impressive success and welcome reductions in these tragic deaths due in large measure to "Back-to-Sleep" campaigns, the fundamental pathogenic mechanisms precipitating such deaths remain dimly exposed. Here, we review the causal link between SIDS and mutations involving the SCN5A-encoded cardiac sodium channel, provide new findings following extensive postmortem genetic testing of long QT syndrome (LQTS)-associated potassium channel genes in a population-based cohort of SIDS, and summarize the current understanding regarding the spectrum and prevalence of cardiac channelopathies in the pathogenesis of SIDS.
一个看似健康、茁壮成长的婴儿未能活到周岁是极其悲惨的。当婴儿意外死亡且死因不明,被诊断为婴儿猝死综合征(SIDS)时,这种悲剧更是雪上加霜。尽管在很大程度上由于“仰睡”运动,这类悲剧性死亡取得了令人瞩目的成功并有所减少,但导致此类死亡的根本致病机制仍未完全明了。在此,我们回顾了SIDS与涉及SCN5A编码的心脏钠通道突变之间的因果联系,在一个基于人群的SIDS队列中对长QT综合征(LQTS)相关钾通道基因进行广泛的死后基因检测后提供了新的发现,并总结了目前对SIDS发病机制中心脏离子通道病的范围和患病率的认识。