一例 I 型 Loeys-Dietz 综合征患者的手术经验。

Surgical experience in a patient with Loeys-Dietz syndrome type I.

机构信息

Department of Cardiothoracic, Transplantation and Vascular Surgery, Hannover Medical School, Hannover, Germany.

出版信息

Ann Thorac Surg. 2014 May;97(5):e125-7. doi: 10.1016/j.athoracsur.2013.12.084.

DOI:10.1016/j.athoracsur.2013.12.084

Abstract

Loeys-Dietz syndrome is a recently described genetic disorder with aortic and vascular involvement. Here, we present the medical history and surgical management of a patient with Loeys-Dietz syndrome type I caused by a mutation in M253I in the TGFBR1 gene who received complete aortic replacement and various peripheral vascular surgeries over the course of 25 years.

摘要

Loeys-Dietz 综合征是一种最近描述的具有主动脉和血管受累的遗传性疾病。在这里，我们介绍了一位 TGFBR1 基因 M253I 突变导致的 Loeys-Dietz 综合征 I 型患者的病史和手术治疗，该患者在 25 年的时间里接受了完全主动脉置换和各种外周血管手术。