一名患有洛伊斯-迪茨综合征儿童的主动脉和肺动脉根部动脉瘤

Aortic and Pulmonary Root Aneurysms in a Child With Loeys-Dietz Syndrome.

作者信息

Rizzo Stefania, Stellin Giovanni, Milanesi Ornella, Padalino Massimo, Vricella Luca A, Thiene Gaetano, Cameron Duke E, Basso Cristina, Vida Vladimiro L

机构信息

Cardiovascular Pathology Unit, Department of Cardiac, Thoracic, and Vascular Surgery, University of Padua, Padua, Italy.

Pediatric and Congenital Cardiac Surgery Unit, Department of Cardiac, Thoracic, and Vascular Surgery, University of Padua, Padua, Italy.

出版信息

Ann Thorac Surg. 2016 Mar;101(3):1193-5. doi: 10.1016/j.athoracsur.2015.05.045.

DOI:10.1016/j.athoracsur.2015.05.045

PMID:26897209

Abstract

We report the case of an 11-year-old boy with Loeys-Dietz syndrome, with both aortic and pulmonary aneurysms requiring cardiac operation because of progressive valve incompetence resulting from loss of coaptation of the cusps. Arterial medial changes, consisting of disarray of elastic fibers and increased collagen deposition, were observed in surgical specimens from both the aorta and the pulmonary artery of our patient, and the strong pSmad2 nuclear staining of smooth muscle cells of both aortic and pulmonary tunica media are the best evidence of transforming growth factor-β pathway activation in Loeys-Dietz syndrome.

摘要

我们报告了一例11岁患有洛伊斯-迪茨综合征（Loeys-Dietz syndrome）的男孩，其主动脉和肺动脉瘤均因瓣叶对合不良导致进行性瓣膜功能不全而需要心脏手术。在我们患者的主动脉和肺动脉手术标本中均观察到动脉中层改变，包括弹性纤维紊乱和胶原沉积增加，并且主动脉和肺动脉中膜平滑肌细胞的强pSmad2核染色是洛伊斯-迪茨综合征中转化生长因子-β途径激活的最佳证据。