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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Observational group | Adults with a diagnosis of Marfan syndrome |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Adults with Marfan syndrome | Other | 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) |
| Measure | Description | Time Frame |
|---|---|---|
| Measurement of physical activity level | 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. | Screening visit. |
| Measure | Description | Time Frame |
|---|---|---|
| Measurement of kinesiophobia (fear of movement or physical exertion) | 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. | Screening visit |
| Measure | Description | Time Frame |
|---|---|---|
| Measurement of age | This variable, considered a potential confounder or moderator, will be measured as a quantitative variable (years). | Screening visit |
| Measurement of gender | This variable, considered a potential confounder or moderator, will be measured as a qualitative variable (male/female). |
Inclusion Criteria:
Exclusion Criteria:
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Adults with Marfan syndrome
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Rubén Cuesta-Barriuso, PhD | Contact | 0034 985103386 | cuestaruben@uniovi.es |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Universidad de Oviedo | Oviedo | Principality of Asturias | 33006 | Spain |
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| ID | Term |
|---|---|
| D008382 | Marfan Syndrome |
| D009043 | Motor Activity |
| D000092442 | Kinesiophobia |
| D005221 | Fatigue |
| D010146 | Pain |
| ID | Term |
|---|---|
| D001848 | Bone Diseases, Developmental |
| D001847 | Bone Diseases |
| D009140 | Musculoskeletal Diseases |
| D006330 | Heart Defects, Congenital |
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| ID | Term |
|---|---|
| D000071837 | Fibrillins |
| ID | Term |
|---|---|
| D006023 | Glycoproteins |
| D006001 | Glycoconjugates |
| D002241 | Carbohydrates |
| D011506 | Proteins |
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|
| Measurement of physical activity self-efficacy | 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. | Screening visit |
| Measurement of perceived fatigue | 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. | Screening visit |
| Measurement of musculoskeletal pain | 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. | Screening visit |
| Measurement of history of cardiovascular surgery | This cardiovascular clinical factor will be recorded as a dichotomous variable (Yes/No). | Screening visit |
| Measurement of history of aortic dissection | This cardiovascular clinical factor will be recorded as a dichotomous variable (Yes/No). | Screening visit |
| Measurement of current cardiovascular treatment | This cardiovascular clinical factor will be recorded as a dichotomous variable (Yes/No). | Screening visit |
| Measurement of presence of current or stable aortic pathology | This cardiovascular clinical factor will be recorded as an ordinal variable (Yes/No/Unknown). | Screening visit |
| Screening visit |
| Measurement of body mass index | This variable, considered a potential confounder or moderator, will be measured as a quantitative variable calculated from body weight (kg) and height (m). | Screening visit |
| Measurement of time since diagnosis of Marfan syndrome | This variable, considered a potential confounder or moderator, will be measured as a quantitative variable (years). | Screening visit |
| Measurement of current medical recommendation regarding physical exercise | This variable, considered a potential confounder or moderator, will be measured as an ordinal categorical variable (restricted / unrestricted / unknown). | Screening visit |
| Measurement of current pain | This variable, considered a potential confounder or moderator, will be measured as a quantitative variable using a numerical rating scale (NRS 0-10). This measure is already included in the BPI-SF and will be used solely as a descriptive control variable | Screening visit |
| D018376 | Cardiovascular Abnormalities |
| D002318 | Cardiovascular Diseases |
| D006331 | Heart Diseases |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
| D003240 | Connective Tissue Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D001519 | Behavior |
| D010698 | Phobic Disorders |
| D001008 | Anxiety Disorders |
| D001523 | Mental Disorders |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D009461 | Neurologic Manifestations |
| D000602 |
| Amino Acids, Peptides, and Proteins |
| D016326 | Extracellular Matrix Proteins |
| D012596 | Scleroproteins |