The Marfan syndrome (MFS) is an autosomal hereditary pathology affecting 1:5000 peoples. The alter of the fibrillin1 gene altering the vascular system (e.g. aneurysm, dissection, rupture of the aorta). International recommendations have gradually allowed MFS patients to perform training programs because of its potential benefits. However, to date, there are no data on the effect of a long period of training in these patients.

The aim of the present study is to investigate the effect of a 3-month personalized home-based training on the quality of life (QoL) of patients suffering from MFS.

At least 90 MFS patients will be included in the study (Figure 1). They will be randomly placed into 4 groups: control group; endurance; resistance and endurance+resistance training groups. The training program will last 3 months and will be performed at patients’ home. There will be 2 training sessions per week telemonitored by a specialist of physical activity and cardiologists. Pre- and post-training evaluations will be performed at the UHC, France. They will consist on assessing psychometric based on self-administered questionnaires (QoL, Pain) and physiological parameters such as the peak oxygen consumption, aorta diameter, cardiac ventricles function and skeletal muscle power at rest and during exercise. On May 4th, the first patient to complete the combined training protocol has shown very encouraging preliminary results. The QoL of this patient was increased by 50% between pre-and post-training. The evolution of the physiological values post-training also showed encouraging results. The VO₂peak increased from 15.9ml/min/kg to 24.8ml/min/kg, the slope of VE/VCO₂ 70 to 27.3, the Aix decreased from 36% to 22%, the FEVG increased from 51% to 64%.

It is hypothesized that this new alternative way of MFS patients care (i.e. the aerobic and force training) will improve their QoL, cardiorespiratory fitness and skeletal muscle power.