Abstract
Marfan syndrome is caused by mutations in the fibrillin-1 gene (FBN1). The most important features affect the cardiovascular system, eyes, and skeleton. The aim of this study was to report the most frequent musculoskeletal alterations observed in 146 patients affected by Marfan syndrome. Fifty-four patients (37%) underwent cardiac surgery and 11 of them received emergent surgery for acute aortic dissection. Ectopia lentis was found in 68 patients (47%) whereas myopia above 3D occurred in 46 patients (32%). Musculoskeletal anomalies were observed in all patients with Marfan syndrome. In 88 patients (60.2%), the associated “wrist and thumb sign” was present; in 58 patients (39.7%), pectus carinatum deformity; in 44 patients (30.1%), pectus excavatum; in 49 patients (33.5%), severe flatfoot; in 31 patients (21.2%), hindfoot deformity; in 54 patients (36.9%), reduced US/LS ratio or increased arm span-height ratio; in 37 patients (25.3%), scoliosis or thoracolumbar kyphosis; in 22 patients (15%), reduced elbow extension (170° or less). Acetabular protrusion was ascertained on radiographs in 27 patients (18.4%). Orthopaedic aspects of the disease are very important for an early diagnosis; however, we have not observed definite correlations between the extent of orthopaedic involvement and aortic complications.
Highlights
Marfan syndrome (MFS) is a variable autosomal dominant disorder of the connective tissue caused by mutations in the fibrillin-1 gene on chromosome 15 encoding the microfibrillar protein fibrillin-1 [1].This disease of connective tissue occurs worldwide and affects both sexes
Inability to detect a mutation in fibrillin-1 gene (FBN1) or a molecular abnormality in fibrillin-1 does not exclude the diagnosis of Marfan syndrome in a person who meets the clinical criteria
In the 86 patients who were diagnosed with Marfan syndrome at our presidium, 38 patients were diagnosed according to the Ghent criteria [3]. 43 patients were diagnosed with Marfan syndrome according to the revised Ghent criteria [4]
Summary
Marfan syndrome (MFS) is a variable autosomal dominant disorder of the connective tissue caused by mutations in the fibrillin-1 gene on chromosome 15 encoding the microfibrillar protein fibrillin-1 [1]. This disease of connective tissue occurs worldwide and affects both sexes . Inability to detect a mutation in FBN1 or a molecular abnormality in fibrillin-1 does not exclude the diagnosis of Marfan syndrome in a person who meets the clinical criteria. Musculoskeletal involvement in Marfan syndrome, even if less drastic, is often more evident than other pathological features and for this reason the orthopaedic aspects of the disease are fundamental for a suspicious diagnosis of this
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
