Department of Orthopaedic Surgery, The Johns Hopkins University, Baltimore, Maryland.
Departments of Pathology and Medicine (Medical Genetics), University of Washington, Seattle, Washington.
JBJS Rev. 2020 Jun;8(6):e0122. doi: 10.2106/JBJS.RVW.19.00122.
Orthopaedic surgeons are sometimes the first specialists encountered by patients with inherited conditions that predispose them to aneurysms. The skeletal features are evident, but the aneurysm is silent. Early recognition of the conditions associated with aneurysms can lead to effective treatment and minimize risks of morbidity and death. Marfan syndrome is characterized by abnormal fibrillin-1 protein and has a broad range of skeletal manifestations, including scoliosis, hindfoot deformity, arachnodactyly, pectus excavatum or carinatum deformity, dural ectasia, and acetabular protrusio. Aneurysm-associated complications are the leading cause of early morbidity and death in patients with Marfan syndrome. Ehlers-Danlos syndrome is caused by a disturbance in collagen biosynthesis most commonly resulting in joint hypermobility and skin abnormalities. Among the types of Ehlers-Danlos syndrome, vascular Ehlers-Danlos syndrome presents the highest risk of vascular complications. Clubfoot and joint dislocations are common presenting symptoms in vascular Ehlers-Danlos syndrome. Loeys-Dietz syndrome is a connective tissue disorder resulting in aortic root dilation and several skeletal manifestations, including scoliosis, cervical malformations, joint contractures, and foot deformities.
矫形外科医生有时是患有易患动脉瘤遗传疾病患者首先接触的专科医生。骨骼特征明显，但动脉瘤无声无息。早期识别与动脉瘤相关的疾病可以进行有效治疗，并将发病率和死亡率的风险降至最低。马凡综合征的特征是异常的原纤维蛋白-1 蛋白，并有广泛的骨骼表现，包括脊柱侧凸、后足畸形、蜘蛛指（趾）、漏斗胸或鸡胸畸形、硬脊膜扩张和髋臼前突。动脉瘤相关并发症是马凡综合征患者早期发病和死亡的主要原因。埃勒斯-当洛斯综合征是由于胶原生物合成紊乱引起的，最常见的是关节过度活动和皮肤异常。在埃勒斯-当洛斯综合征的类型中，血管埃勒斯-当洛斯综合征的血管并发症风险最高。马蹄足和关节脱位是血管埃勒斯-当洛斯综合征的常见表现症状。洛伊兹-迪茨综合征是一种结缔组织疾病，导致主动脉根部扩张和几种骨骼表现，包括脊柱侧凸、颈椎畸形、关节挛缩和足部畸形。
