为一名患有洛伊斯-迪茨综合征的9岁男孩进行全主动脉置换术。

Total Aortic Replacement for a 9-Year-Old Boy With Loeys-Dietz Syndrome.

作者信息

Inoue Yosuke, Minatoya Kenji, Oda Tatsuya, Itonaga Tatsuya, Seike Yoshimasa, Tanaka Hiroshi, Sasaki Hiroaki, Kobayashi Junjiro

机构信息

Department of Cardiovascular Surgery, National Cerebral and Cardiovascular Center, Osaka, Japan.

出版信息

Ann Thorac Surg. 2016 Mar;101(3):1185-8. doi: 10.1016/j.athoracsur.2015.05.071.

DOI:10.1016/j.athoracsur.2015.05.071

PMID:26897206

Abstract

Loeys-Dietz syndrome (LDS) is a recently identified rare connective tissue disorder caused by mutations of the transforming growth factor-β receptors and first described in 2005. It is an autosomal dominant syndrome with 2 different phenotypic expressions-LDS I and II. LDS is characterized by the triad of arterial tortuosity and aneurysm, hypertelorism, and a bifid uvula or cleft palate. We present a case of a 9-year-old boy diagnosed with LDS who underwent urgent thoracoabdominal aortic aneurysm repair followed by total arch replacement and aortic valve-sparing root replacement (AVSRR).

摘要

洛伊迪茨综合征（LDS）是一种最近发现的罕见结缔组织疾病，由转化生长因子-β受体突变引起，于2005年首次被描述。它是一种常染色体显性综合征，有两种不同的表型表达——LDS I型和II型。LDS的特征为动脉迂曲和动脉瘤、眼距过宽、以及悬雍垂裂或腭裂三联征。我们报告一例9岁被诊断为LDS的男孩，该患儿接受了紧急胸腹主动脉瘤修复术，随后进行了全弓置换和保留主动脉瓣的根部置换术（AVSRR）。