马凡综合征

定义

马凡综合征是一种结缔组织系统性疾病，以心血管、肌肉-骨骼、眼科和肺部表现的不同组合为特征。心血管受累的特点是：1）主动脉进行性扩张，伴有主动脉夹层风险增加，影响预后；2）二尖瓣关闭不全。骨骼受累通常是该病的首个症状，可包括肢体细长症、大尺寸、蜘蛛指畸形、关节过度活动、脊柱侧凸畸形、髋臼内陷症、胸廓变形、前后轴长头症、小颌畸形或颧骨发育不全。眼部受累导致轴性近视，可导致视网膜脱离和晶状体移位。

Marfan syndrome is a systemic disease of connective tissue characterised by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations. Cardiovascular involvement is characterised by 1) progressive dilation of the aorta accompanied by an increased risk of aortic dissection, which affects prognosis and 2) mitral insufficiency. Skeletal involvement is often the first sign of the disease and can include dolichostenomelia, large size, arachnodactyly, joint hypermobility, scoliotic deformations, acetabulum protrusion, thoracic deformity, dolichocephaly of the anteroposterior axis, micrognathism or malar hypoplasia. Ophthalmic involvement results in axile myopia, which can lead to retinal detachment and lens displacement.

索引词 可用于检索该条目的同义词与别名

• 马凡综合征
• 马凡氏病
• 马方综合征
• 马凡综合征1型
• 马方综合征1型
• 马凡综合征2型
• Loeys-Dietz综合征
• 马方综合征2型