Hip Joint Function and Health in Patients with Marfan Syndrome

TITLE: Hip Joint Function and Health in Patients with Marfan Syndrome KEYWORDS: magnetic resonance imaging, pain, biomechanics, musculoskeletal simulations PROJECT ABSTRACT Patients with Marfan Syndrome (MFS) have abnormal fibrillin deposition in the extracellular matrix, significantly affecting the cardiovascular and musculoskeletal systems. Previous research primarily focused on the cardiovascular system, but the mechanisms involved in the development of chronic pain and muscle weakness within the MFS population are unknown. Approximately 46% of patients with MFS self-report hip joint pain. A diagnostic feature of Marfan syndrome is acetabular protrusion, which leads to a higher risk of developing secondary hip osteoarthritis. The impact of MFS on hip joint muscle function, muscle morphology and gait mechanics are unknown. Furthermore, the association of these factors with the onset of hip joint pain and cartilage degeneration within the MFS population are unknown. Therefore, a mechanistic assessment of the effects of MFS on hip joint muscle function, muscle morphology and hip joint mechanics is needed. These novel data will provide insight into the mechanisms involved in onset of hip joint pain and cartilage degeneration in the MFS population. Our study proposes a novel multi-modality approach consisting of gait analysis, musculoskeletal simulations and magnetic resonance imaging to assess differences in hip abductor strength, abductor morphology (volume and fatty infiltration) and hip joint contact forces (JCF) in patients with MFS and healthy controls. We will also determine the ability of hip joint abductor muscle volume, hip abductor fatty infiltration and hip JCF to predict severity of hip joint pain and hip joint cartilage degeneration within the MFS population. Our study is the first to mechanistically assess the effects of MFS on hip joint muscle function and joint mechanics that may be involved in development of hip osteoarthritis in this population. The results of this study will provide insight into the development of targeted muscle-based interventions that will reduce hip joint pain and hip joint cartilage degeneration within the MFS population.