Effects of Personalized Training at Home Combining Endurance and Resistance in Patients Suffering From Marfan Syndrome

Evaluation of the Effects of Personalized Training at Home Combining Endurance and Resistance in Patients Suffering From Marfan Syndrome

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.

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)

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