Clinical and Psychosocial Factors Associated With Physical Activity Level in Adults With Marfan Syndrome

Clinical and Psychosocial Factors Associated With Physical Activity Level in Adults With Marfan Syndrome: A Cross-Sectional Observational Study

Background. Marfan syndrome is a genetic connective tissue disorder with cardiovascular and musculoskeletal involvement. Despite clinical advances, many patients exhibit low levels of physical activity, influenced by clinical and psychosocial factors such as fear of exertion, fatigue, or pain. Physical activity behavior in this population remains insufficiently characterized.

Objective. To assess the level of physical activity in adults with Marfan syndrome and to identify the main associated clinical and psychosocial factors, in order to determine predictors of low physical activity.

Methods. An observational, analytical, cross-sectional study will be conducted. Adults with a diagnosis of Marfan syndrome will be included. The primary outcome will be physical activity level, assessed using the International Physical Activity Questionnaire-Short Form. The main independent variables will include kinesiophobia (Tampa Scale for Kinesiophobia), physical activity self-efficacy, perceived fatigue (Fatigue Severity Scale), musculoskeletal pain (Brief Pain Inventory-Short Form), and cardiovascular clinical factors. Potential confounders will include age, sex, body mass index, time since diagnosis, medical recommendations regarding exercise, and current pain. Descriptive analyses and a multivariable logistic regression model will be performed to identify independent predictors of low physical activity.

Expected results. To characterize the level of physical activity in adults with Marfan syndrome and to identify the clinical and psychosocial factors that independently predict low physical activity in this population.

Inclusion Criteria:

• Adults (≥18 years).
• A confirmed diagnosis of Marfan syndrome according to accepted clinical criteria used in routine follow-up.
• Ability to understand and complete an online questionnaire in Spanish.
• Access to the internet and an appropriate device to complete the survey.
• Provision of informed consent to participate in the study.

Exclusion Criteria:

• Patients with cognitive impairment or comprehension/literacy difficulties that preclude valid completion of the questionnaires.
• Who have experienced a major cardiovascular event or undergone recent cardiovascular/aortic surgery that substantially limits physical activity during the most recent reference period (e.g., within the past 3 months).
• With acute conditions or recent musculoskeletal injuries not attributable to Marfan syndrome that markedly restrict physical activity during the previous 7 days (the reference period of the IPAQ-SF).
• With incomplete questionnaires for essential variables (IPAQ-SF and/or main predictors)