疾病条目id

DI-00130

基因病名称(英)

Aortic aneurysm, familial thoracic 6

基因病名称

主动脉瘤，家族性胸 6

关键字(英)

Aortic aneurysm

关键字

主动脉瘤

别名(英)

Familial thoracic aortic aneurysm with livedo reticularis and iris flocculi

别名

伴有网状青斑和虹膜绒毛的家族性胸主动脉瘤

统计

reviewed:1; annotated:0

交叉引用

611788,C2673186,D017545

助记符

AAT6

描述(英)

A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance.

描述

一种以胸主动脉永久扩张为特征的疾病，通常是由于主动脉壁的退行性变化。它主要与称为“中层坏死”或“Erdheim 囊性中层坏死”的特征性组织学表现有关，其中有弹性纤维的退化和断裂、平滑肌细胞的损失和嗜碱性基质的积累。