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.
ASJC Scopus subject areas
- Orthopedics and Sports Medicine