Abstract

Background: Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder and is associated with muscle dysfunction. Individuals with MFS exhibit quadriceps weakness, hip joint pain, and an increased incidence of hip osteoarthritis (OA) compared to the general population, yet the underlying biomechanical factors associated with these poor hip-related outcomes are not well understood. Research question: The purpose of this study was to assess the effects of MFS on gait mechanics and to determine the relationship of gait mechanics with hip-related outcomes within the MFS group. Methods: Eighteen people with MFS and 18 healthy, asymptomatic controls underwent 3D gait analysis. All study participants completed the Hip disability and Osteoarthritis Outcome Survey (HOOS) to obtain patient reported outcomes. (PROs). Between group differences in demographics, HOOS scores, and gait mechanics were analyzed via independent t-tests, a Kruskal-Wallis test, and a multi variate analysis of covariance while adjusting for age, respectively. A Spearman's rank-order correlation was used to assess the relationship between HOOS sub-scores and kinetic and kinematic parameters. Results: The MFS cohort was significantly older than the control cohort and ambulated with altered sagittal plane pelvis, knee and ankle kinematics as well as ankle kinetics. The MFS cohort ambulated with a higher hip transverse plane range of motion, hip extensor moment impulse (HEMI), peak hip abduction moments and hip abduction moment impulse. The MFS group also exhibited a higher hip internal rotation moment (HIRM) compared to the control group. The MFS cohort also self-reported worse hip-related PRO. Higher HIRM and HEMI were associated with worse hip-related pain and QOL within the MFS group. Significance: These results suggest that people with MFS walk with altered pelvic and lower extremity joint mechanics which may be associated with the higher incidence rates of hip OA and poor hip-related PRO observed in the MFS population.

Original languageEnglish
Pages (from-to)78-84
Number of pages7
JournalGait and Posture
Volume121
DOIs
StatePublished - Sep 2025

Bibliographical note

Publisher Copyright:
© 2025 Elsevier B.V.

Funding

This work was supported by funding from the Marfan Foundation, National Heart Lung and Blood Institute to M.B.S. (K01-HL149984), National Institute on Aging to M.A.S (K01-AG073698), National Institute on Arthritis and Musculoskeletal and Skin Diseases to B.M.M.G. (K01-AR080776) and the National Center for Advancing Translational Sciences (KL2-TR001996; UL-TR001998). The content of this study is solely the responsibility of the authors and does not necessarily represent the views of the NIH or Marfan Foundation.

FundersFunder number
National Institutes of Health (NIH)
National Marfan Foundation
National Center for Advancing Translational Sciences (NCATS)UL-TR001998, KL2-TR001996
National Center for Advancing Translational Sciences (NCATS)
National Heart, Lung, and Blood Institute Family Blood Pressure ProgramK01-HL149984
National Heart, Lung, and Blood Institute Family Blood Pressure Program
National Institute of Arthritis and Musculoskeletal and Skin DiseasesK01-AR080776
National Institute of Arthritis and Musculoskeletal and Skin Diseases
National Institute on AgingK01-AG073698
National Institute on Aging

    Keywords

    • Connective tissue disorders
    • Gait
    • Hip joint
    • Marfan syndrome
    • Osteoarthritis

    ASJC Scopus subject areas

    • Biophysics
    • Orthopedics and Sports Medicine
    • Rehabilitation

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