Marfan syndrome (MFS) is a rare genetic disease leading to a multisystem damage related to connective tissue fragility.Chronic fatigue and decreased physical endurance are almost constant complaints of patients with MFS, whose muscular mass is reduced from childhood, which could explain the bone mass deficit observed in this population.

We hypothesize that a personalized rehabilitation program will improve general fitness and quality of life of these patients.

Self-controlled study with a 6-month home-based cyclo-ergometer and muscular strengthening personalised rehabilitation program based on first ventilatory-threshold. Baseline evaluation was performed 3 months prior to the start of the rehabilitation program (control), then at the beginning of the program and at 6 months, with a mid-term evaluation at 3 months.

We included 28 MFS patients between 7 and 20 years (mean 12.8±3.69 years, 39% females), with a mild aortic dilatation for 50% (mean z-score +2,4), no major valvopathy, no cardiac impairment and a history of pneumothorax for 3 of them; most where under preventive beta-blocker treatment (93%). After a 6-month rehabilitation program no progression in aortic diameters, heart-rate or arterial pressure was found. Significant improvement in first ventilatory-threshold was achieved (mean +4,54mL.min-1.kg-1; P=0.035) (Figure 1), alongside an increase in maximal sustained workload with a mean +24.5 Watts (P<0.001) associated to a small but significant increase in VO2 (+131.58ml.min-1; P=0.016). Muscular strength gain was shown both by dominant hand-grip (mean +4.3kg; P<0.001) and dominant leg strength (+67.33 Nm; P=0.005). Overall, QoL of participants improved according to self-reported and proxy-reported total score, physical health and social function.

Young patients with Marfan or associated syndromes can safely benefit for a home-based personalised rehabilitation program, improving both their overall fitness, muscular strength and cardiovascular health; with a favourable impact in their QoL.