The pathogenesis of aortopathy in Marfan syndrome and related diseases.
The pathogenesis of aortopathy in Marfan syndrome and related diseases.
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Marfan综合征和相关疾病中主动脉疾病的发病机理。
DOI：
10.1007/s11886-010-0083-z
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发表时间：
2010-03
影响因子：
3.7
通讯作者：
Ikonomidis, John S
中科院分区：
文献类型：
--
作者：
Jones, Jeffrey A;Ikonomidis, John S
马凡氏综合征是一种系统性结缔组织疾病，遗传常染色体显性模式与可变外显率。虽然该病有许多临床表现，但最危及生命的是心血管并发症，包括二尖瓣脱垂和主动脉根部动脉瘤。当在纤原蛋白-1基因中发现主要缺陷时，人们假设纤原蛋白-1的突变导致弹性结构减弱和紊乱。然而，最近的证据表明，MFS综合征不仅仅是由微纤维基质紊乱引起的。当发现纤颤蛋白-1突变增强了隔离的潜在转化生长因子- β的释放时，引起了人们的兴趣，这是一种被很好地描述为血管重塑的介质。现就马凡氏综合征及相关疾病主动脉病变的病理生理机制作一综述，重点介绍转化生长因子- β在马凡氏综合征及相关疾病发病机制中的作用。
Marfan syndrome is a systemic connective tissue disorder that is inherited in an autosomal dominant pattern with variable penetrance. While there are many clinical manifestations of this disease, the most life threatening are cardiovascular complications including mitral valve prolapse and aortic root aneurysm. When the primary defect was discovered in the fibrillin-1 gene, it was hypothesized that mutations in fibrillin-1 resulted in a weakened and disordered elastic architecture. Recent evidence, however, has suggested that MFS syndrome is caused by more than just a disordered microfibril matrix. Interest was stimulated when it was discovered that fibrillin-1 mutations enhanced the release of sequestered latent transforming growth factor-beta, a well described mediator of vascular remodeling. The present review will focus on the pathophysiology of aortopathy in Marfan syndrome and related diseases, with special emphasis on the role of transforming growth factor-beta in mediating the pathogenesis of this disease.