Schwartz Peter J
Department of Cardiology, IRCCS Policlinico S. Matteo and University of Pavia, Pavia, Italy.
J Intern Med. 2006 Jan;259(1):39-47. doi: 10.1111/j.1365-2796.2005.01583.x.
The long QT syndrome (LQTS) is a genetic disorder responsible for many sudden deaths before age 20. The identification of several LQTS genes, all encoding cardiac ion channels, has had a major impact on the management strategy for both patients and family members. Genotype-guided therapy allows more effective individually tailored therapy. Therapeutic options, including beta-blockers, left cardiac sympathetic denervation, and implantable defibrillators are discussed for patients of known and of unknown genotype. The recent identification of modifier genes which amplify the effect of an LQTS mutation may change the approach to risk stratification.
长QT综合征（LQTS）是一种遗传性疾病，是20岁前许多猝死事件的病因。多个LQTS基因的鉴定，所有这些基因都编码心脏离子通道，对患者及其家庭成员的管理策略产生了重大影响。基因型指导的治疗允许更有效的个体化定制治疗。针对已知和未知基因型的患者，讨论了包括β受体阻滞剂、左心交感神经去神经支配和植入式除颤器在内的治疗选择。最近发现的修饰基因可放大LQTS突变的效应，这可能会改变风险分层的方法。
