Altered Gait Mechanics in Marfan Syndrome

FBN1 is a gene responsible for the production of fibrillin, a major component of connective tissue throughout the body including skeletal muscle tissue. In individuals with Marfan Syndrome these mutations in FBN1 result in widespread muscle weakness and a correspondingly higher incidence of lower extremity joint pain. Despite the widespread musculoskeletal impacts of Marfan Syndrome there is a dearth of research on the potential impacts of Marfan Syndrome on gait mechanics that may be related to the high incidence of lower extremity joint pain in the Marfan Syndrome population. Therefore, the purpose of this study was to determine the potential biomechanical alterations during gait in individuals with Marfan Syndrome and asymptomatic, healthy controls. Subjects underwent three-dimensional gait analysis at a fixed speed of 1.35 m•s-1. In Aim 1, between-group differences were assessed in hip-related patient reported outcomes and the hip Total Joint Moment. In Aim 2, vector coding was used to assess hip, knee and ankle joint coordination patterns. Our results show that individuals with Marfan Syndrome walk with altered kinetics and kinematics compared to asymptomatic, healthy controls. Further research should assess more demanding activities of daily living to assess the impact of Marfan Syndrome on lower extremity joint pain.