Department of Pediatrics Cardiology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX 77030, USA.
Heart Fail Clin. 2010 Oct;6(4):507-14, ix. doi: 10.1016/j.hfc.2010.05.008.
Since the sentinel discovery of long QT syndrome as a channelopathy in 1995, many significant strides have been made related to exposing the pathogenic mechanisms underlying sudden cardiac death. However, elucidating the most influential genetic and environmental determinants that underlie the variable penetrance and expressivity of the primary syndrome-associated mutation remains a daunting task.
自 1995 年发现长 QT 综合征作为一种通道病以来,在揭示导致心脏性猝死的发病机制方面已经取得了许多重大进展。然而,阐明导致主要综合征相关突变可变外显率和表现度的最具影响力的遗传和环境决定因素仍然是一项艰巨的任务。