Loeys-Dietz综合征1例  

A case report of Loeys-Dietz syndrome

作　　者：陈奇童 宋来春 陶凉 CHEN Qitong;SONG Laichun;TAO Liang(Department of Cardiac Surgery,Wuhan Asia Heart Hospital Affiliated with the Wuhan University of Science and Technology,Wuhan,430022,China)

机构地区：[1]武汉科技大学附属武汉亚洲心脏病医院心外科

出　　处：《临床心血管病杂志》2021年第10期969-972,共4页Journal of Clinical Cardiology

基　　金：武汉市科技计划项目(No:2020020601012317)。

摘　　要：主动脉夹层(aortic dissection,AD)是一种以撕裂样、刀割样剧烈疼痛为主要表现的心血管急危重症,未行治疗的AD致死率极高。导致AD的主要原因是血压控制不理想,还有一部分则与某些基因突变密切相关,如马凡综合征(MFS)、Loeys-Dietz综合征(LDS)、血管型Ehlers-Danlos综合征(vEDS)、家族性胸主动脉瘤/夹层(FTAAD)等。其中因临床表现与MFS极其相似,LDS曾经被称为2型MFS,但LDS往往较MFS主动脉瘤或夹层的发展更为迅猛,从青少年阶段即可发生,常以猝死为首发表现^([1]),因此对于LDS的诊断尤为重要。Loeys-Dietz syndrome(LDS)is an autosomal dominant genetic aortic disease characterized by the triad of tortuous arteries and aortic aneurysms,hypertelorism,and a bifid uvula or cleft palate,namely the vascular manifestations.A 7-year-old boy was transferred to the hospital with acute aortic dissection and performed in David’s procedure.The gene detection showed the heterozygous variation of TGFBR2(OMIM:610168).Combined with other information,we made the diagnosis of LDS.After the operation,the patient’s prognosis was improved.

关 键 词：Loeys-Dietz综合征 主动脉夹层 马凡综合征 

分 类 号：R654.3[医药卫生—外科学]