摘要
Timothy综合征,即遗传性长QT综合征的8型,是由于编码L型钙通道的CACNA1C基因发生突变而产生的罕见的多器官功能障碍的遗传性疾病,常导致严重的表型异常以及过早死亡。目前对Timothy综合征的治疗方法包括β受体阻滞剂、安置心脏起搏器、使用埋藏式心脏复律除颤器、左侧颈胸交感神经切除术等,但这些方法的有效性尚缺乏证据。
The long QT syndrome type 8, known as Timothy syndrome,is a rare multiorgan dysfunction caused by a CACNA1C muta- tion that always accompanied by severe phenotypes and early fatality. To date, several therapies including beta-adrenergic receptor blockers, pacemakers,imptantable cardioverter defibrillator and left cervicothoracic sympathectomy are used for these patients, but no data concerning their effectiveness are available.
出处
《心血管病学进展》
CAS
2016年第1期81-83,共3页
Advances in Cardiovascular Diseases
