Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Cardiovasc Pathol. 2011 Jan-Feb;20(1):15-25. doi: 10.1016/j.carpath.2009.09.008.
Ascending aortic diseases (aneurysms, dissections, and stenosis) and associated aortic valve disease are rare but important causes of morbidity and mortality in children and young adults. Certain genetic causes, such as Marfan syndrome and congenital bicuspid aortic valve disease, are well known. However, other rarer genetic and nongenetic causes of aortic disease exist.
We performed an extensive literature search to identify known causes of ascending aortic pathology in children and young adults. We catalogued both aortic pathologies and other defining systemic features of these diseases.
We describe 17 predominantly genetic entities that have been associated with thoracic aortic disease in this age group.
While extensive literature on the common causes of ascending aortic disease exists, there is a need for better histologic documentation of aortic pathology in rarer diseases.
升主动脉疾病（动脉瘤、夹层和狭窄）以及相关的主动脉瓣疾病在儿童和年轻成人中虽少见但发病率和死亡率高，是重要病因。某些遗传病因如马凡综合征和先天性二叶主动脉瓣疾病已广为人知。然而，主动脉疾病还有其他更为罕见的遗传和非遗传病因。
我们广泛检索文献，以明确儿童和年轻成人升主动脉病变的已知病因。我们对这些疾病的主动脉病变和其他系统性特征进行了分类。
我们描述了 17 种主要与该年龄段胸主动脉疾病相关的遗传疾病。
尽管有大量关于升主动脉疾病常见病因的文献，但在更为罕见的疾病中，有必要对主动脉病理进行更广泛的组织学记录。
