Abstract:

Marfan syndrome (MFS) is an autosomal dominant connective tissue disease with a low prevalence rate that is easily overlooked in clinical practice. Involvement of the cardiovascular system, skeleton, and eyes is considered the "classic triad" of MFS. Cardiovascular lesions such as aortic root dilatation with aortic valve insufficiency, aortic aneurysm, and aortic coarctation are more common. Cardiovascular events such as cardiac enlargement, malignant arrhythmia, and rupture of the aortic coarctation are the main causes of death in MFS patients. In this article, we report two patients with MFS and review them in the context of the literatures, aiming to help clinicians improve their understanding on MFS.

Key words:

Marfan syndrome, FBN1, Clinical manifestations

摘要：

马方综合征（Marfan syndrome，MFS）是一种常染色体显性遗传结缔组织疾病，其发病率较低，在临床工作中容易被忽视。心血管系统、骨骼、眼部受累被认为是MFS“经典三联征”。心血管病变以主动脉根部扩张伴主动脉瓣关闭不全、主动脉瘤和主动脉夹层较为常见，而心脏扩大、恶性心律失常、主动脉夹层破裂等心血管事件是MFS患者死亡的主要原因。本文报道了2例MFS患者并结合文献进行复习，旨在帮助临床医师提高对MFS的认识。

关键词:

马方综合征, 原纤维蛋白1, 临床表现