Marfan Syndrome
Conditions
Keywords
Physical training
Brief summary
Marfan syndrome (MS) is an autosomal dominant genetic disorder caused by a mutation in the fibrillin-1 gene (FBN1) encoding the protein fibrillin-1. Fibrillin is the main component of microfibrils, elements found in all of the body's tissues, and this pathology is characterized by the multitude of its clinical manifestations. These patients may develop aneurysms in the aortic root and one of the main factors of morbidity in patients with MS is aortic dissection. Prevention mainly involves preventive aortic surgery. However, the repercussions are global and can affect the functioning of other tissues such as skeletal muscle tissue, bone tissue, lung tissue and the eyes. The association of skeletal (scoliosis, hyperlaxity), muscular and ocular disorders is clearly associated with an impairment in the quality of life. These disorders are associated with pain and disability which affect professional activity, leisure and family life. Physical activity could represent a relevant alternative for these patients. A recent animal study suggests that moderate training is beneficial.
Detailed description
The main objective is to show that the quality of life of patients with Marfan syndrome can be improved by personalized training at home. The goal is to be able to offer new non-drug management based on physical activity to these patients. Improved quality of life; Improvement of muscle strength by a muscle strengthening protocol; Improvement of cardiovascular function parameters. Regular coaching throughout the study. 1. / Assessment of muscular capacities 2. / Assessment of cardiovascular and respiratory capacities 3. / Response to psychometric questionnaires 4. / Participation in a training circuit (training protocol)
Interventions
OTHEREndurance training
Aerobic circuit training
OTHERMuscle building training
Muscle strengthening circuit training
Sponsors
French Cardiology Society
Study design
Allocation
RANDOMIZED
Intervention model
PARALLEL
Primary purpose
SUPPORTIVE_CARE
Masking
NONE
Intervention model description
3 groups of physical training intervention compared with control group
Eligibility
Sex/Gender
ALL
Age
18 Years to 75 Years
Healthy volunteers
No
Inclusion criteria
* patient with Marfan syndrome and followed up at Bichat Claude Bernard hospital, Paris. Marfan syndrome should be diagnosed according to the Ghent nosology revised in 2010 * Patient taking protective treatment for the aorta (beta blocker, calcium channel blocker, ACE inhibitor, angiotensin II receptor antagonist). * Valid patient, able to return to consultation and carry out functional assessments and personalized physical training at home. * Patients operated prophylactically on the ascending aorta may be included at a distance \> 6 months from their surgery.
Exclusion criteria
* Myocardial pathology other than Marfan syndrome. * Thoracic aorta dissection. * Aortic diameter \> 45 millimeters. * Uncontrolled high blood pressure at rest (systolic blood pressure \> 140 Millimeter of mercury and diastolic blood pressure \> 90 Millimeter of mercury) * Increase in systolic blood pressure \> 160 Millimeter of mercury during exercise. * Pregnancy at the time of the study
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Quality of life assessment: questionnaire | 3 months | Assessed with Medical Outcome Study Short Form 36 questionnaire, a scale scored on a 0 to 100 range so that the lowest is the worth condition and highest is the best condition. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Self-perception assessment | 3 months | Assessed with Physical Self Inventory questionnaire, a scale scoring 25 items rated on a 6-point scale ranging from 1 (Not at all) to 6 (Entirely) and assessing 6 dimensions (global self-worth (10-50), physical self-worth (10-50), physical condition (10-50), sport competence (10-40), physical attractiveness (10-30), and physical strength (10-30)) of the physical self-conception. |
| Aortic diameter | 3 months | Evolution of the aortic diameter (in millimeter) in echocardiography, safety cardiovascular parameters |
| Blood pressure | 3 months | Evolution of the systolic and diastolic blood pressures (in Millimeter of mercury) during exercise, monitoring of physiological parameters |
| Heart rate | 3 months | Evolution of heart rate (Beats per minute) during exercise, monitoring of physiological parameters |
| Pain assessment: Fibromyalgia Rapid Screening Tool | 3 months | Assessed with Fibromyalgia Rapid Screening Tool |
| Maximal voluntary contraction | 3 months | Evolution of maximal voluntary contraction (in Newtons) during exercise, monitoring of physiological parameters |
| Left Ventricular Ejection Fraction (LVEF) | 3 months | Evolution of Left Ventricular Ejection Fraction (in percentage) at rest, monitoring of cardiovascular parameters. |
| Global longitudinal strain (GLS) | 3 months | Evolution of GLS (in percentage) at rest, monitoring of cardiovascular parameters |
| oxygen consumption | 3 months | Evolution of oxygen consumption (in liter) during exercise, monitoring of physiological parameters |
Countries
France
Outcome results
None listed