Graduate Research Mariana Jacobs: Knee Joint Mechanics and Muscle Function in Children and Adolescents with Marfan Syndrome

Abstract: Marfan Syndrome (MFS) is a hereditary connective tissue disorder caused by genetic mutations in fibrillin-1, which alters muscle tissue composition and function. Quadriceps muscle dysfunction and early onset knee osteoarthritis (OA) are highly prevalent in adults with MFS, yet the presence, underlying factors and corresponding impact of quadriceps dysfunction on knee joint function in children and adolescents with MFS has not been investigated. Assessing the underlying factors associated with quadriceps dysfunction in young individuals with MFS will help to better understand the potential pathomechanism of knee OA in adults with MFS. This proposal will utilize a multi-modal approach, consisting of quantitative imaging, muscle function testing, and gait analysis to elucidate the underlying factors and corresponding impact of quadriceps dysfunction on knee joint mechanics in children and adolescents with MFS. Our results will provide clinically relevant information to develop scientifically justified muscle- and gait-related interventions to prevent onset of knee joint disease, at an earlier age, in individuals with MFS.