Orthopaedic Aspects of Marfan Syndrome: The Experience of a Referral Center for Diagnosis of Rare Diseases

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.

Craniofacial characterization of Marfan Syndrome

“…5 The historical literature for MFS reports that some musculoskeletal features are absent or less evident during growth, and diagnosis in children or teenagers can be difficult which likely accounts for our findings. 4 For two of the measurements, biocular width, facial width, the majority of our subjects fell outside of the normal range. This finding appeared to be irrespective of age (Figures 2A,B).…”

“…Within the ocular system, the hallmark feature is ectopia lentis (dislocation of the lens of the eye), and observed in approximately 60% of patients . While the features in the skeletal system are not a major source of morbidity/mortality and do not account for sudden or premature death, they are essential for diagnosis . Skeletal features are the most striking physical features of MFS and may lead to a suspicion for this syndrome in undiagnosed patients.…”

Pectus Updates and Special Considerations in Marfan Syndrome

“…They affect a significant proportion of the general population (0.8%) and an even greater proportion of patients with Marfan syndrome (up to 70%). 1 They are associated with a significant degree of morbidity and psychological distress; however, recent advances have highlighted several safe and well tolerated treatment options. Here we discuss both operative and non-operative techniques for the treatment of pectus deformity, the importance of a well-timed intervention and special considerations in patients with Marfan syndrome.…”

Features of Marfan syndrome not listed in the Ghent nosology – the dark side of the disease

“…Chest wall deformities such as scoliosis and pectus deformities are common with Marfan Syndrome often resulting in restrictive lung disease [172]. With severe restriction, thoracic insufficiency syndrome (TIS) develops punctuated by impaired ventilation and gas exchange [173].…”