Loeys-Dietz综合征1例

A case report of Loeys-Dietz syndrome

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.