特纳综合征的心血管异常

Cardiovascular abnormalities in patients with Turner's syndrome

目的分析遗传性疾病特纳综合征(TS)合并的先天性心血管异常。方法回顾25例女性TS患者临床特点及先天性心血管异常类型,并分析各种异常在不同核型患者中的分布情况。结果 40%TS患者合并先天性心血管异常,包括主动脉二叶瓣畸形、二尖瓣/主动脉瓣冗长或脱垂、冠状静脉窦扩张、房室增大及心肌致密化不全。45,XO型患者先天性心血管畸形显著多于嵌合型(40%vs14%,P<0.01)。TS患者升主动脉与主动脉根部内径指数显著高于正常对照[(27±5)mm/m2vs(18±2)mm/m2、(28±6)mm/m2vs(18±2)mm/m2,P<0.001]。结论严格筛查TS患者先天性心血管异常以及合并存在的心血管疾病危险因素有助于预测TS患者心血管死亡风险。

Objective To analyse the cardiovascular abnormalities in patients with Turner＇s syndrome（TS）.Methods Clinical features and cardiovascular abnormalities of 25 female patients with TS were analyzed according to karyotype.Results Congenital cardiovascular malformations were detected in 40% of TS patients,including bicuspid aortic valve,mitral/aortic lengthy or prolapse,coronary sinus dilation,cardiac chamber dilation,and noncompaction of the ventricular myocardium.The patients with monosomy X had a higher incidence of cengenital cardiovascular malformation than those with mosaicism（40% vs 14%,P0.01）.Aortic size index,including root and assending aorta were significantly greater in TS than the healthy contro[（27±5）mm/m2 vs（18±2）mm/m2,（28±6）mm/m2 vs（18±2）mm/m2,P0.001].Conclusion Regular evaluation of congenital cardiovascular malformations and accompanied risk factors may help to predict the risk of cardiovascular death.