Marfan Syndrome
Conditions
Keywords
Marfan syndrome, Motor activity, Exercise, Kinesiophobia, Fatigue, Pain, Self efficacy
Brief summary
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.
Interventions
OTHERAdults with Marfan syndrome
Assessment of psychosocial and clinical factors potentially associated with engagement in physical activity, including kinesiophobia, physical activity self-efficacy, perceived fatigue, musculoskeletal pain, and cardiovascular clinical factors (aortic history and treatment)
Sponsors
University of Oviedo
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Measurement of physical activity level | Screening visit. | This variable will be assessed using the validated Spanish version of the International Physical Activity Questionnaire-Short Form (IPAQ-SF). The questionnaire records the frequency (days/week) and duration (minutes/day) of vigorous-intensity activities, moderate-intensity activities, and walking performed during the previous 7 days. Total physical activity will be expressed in MET-minutes per week, calculated according to the official IPAQ scoring protocol (8.0 METs for vigorous activity, 4.0 METs for moderate activity, and 3.3 METs for walking). In addition, physical activity level will be categorized as low, moderate, or high, based on the criteria established by the instrument. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Measurement of kinesiophobia (fear of movement or physical exertion) | Screening visit | This variable will be assessed using the Spanish validated version of the Tampa Scale for Kinesiophobia. The scale consists of 11 items with a 4-point Likert-type response format. Total scores range from 11 to 44, with higher scores indicating greater levels of kinesiophobia. |
| Measurement of physical activity self-efficacy | Screening visit | This variable will be assessed using the Physical Activity Self-Efficacy Scale, which consists of 10 items evaluating the individual's perceived confidence in maintaining exercise behavior in the presence of common barriers. The total score will be used as a continuous variable, with higher values indicating greater perceived self-efficacy. |
| Measurement of perceived fatigue | Screening visit | Perceived fatigue will be assessed using the Fatigue Severity Scale (FSS), which consists of 9 items rated on a scale from 1 (never) to 7 (always). The score will be expressed as the mean of the item responses. A mean score ≥ 4 will be considered indicative of clinically significant fatigue. |
| Measurement of musculoskeletal pain | Screening visit | This variable will be assessed using the Spanish version of the Brief Pain Inventory-Short Form (BPI-SF). The pain severity and pain interference subscales will be used, expressed as mean scores on a 0-10 scale, where higher values indicate greater pain intensity or functional interference due to pain. |
| Measurement of history of cardiovascular surgery | Screening visit | This cardiovascular clinical factor will be recorded as a dichotomous variable (Yes/No). |
| Measurement of history of aortic dissection | Screening visit | This cardiovascular clinical factor will be recorded as a dichotomous variable (Yes/No). |
| Measurement of current cardiovascular treatment | Screening visit | This cardiovascular clinical factor will be recorded as a dichotomous variable (Yes/No). |
| Measurement of presence of current or stable aortic pathology | Screening visit | This cardiovascular clinical factor will be recorded as an ordinal variable (Yes/No/Unknown). |
Countries
Spain
Contacts
CONTACTRubén Cuesta-Barriuso, PhD
Outcome results
None listed