MARFANPOWER: Results of a home-based cardiorespiratory and muscle rehabilitation program for children and young adults with Marfan syndrome

Abstract

Introduction

Marfan or associated syndromes (MFS) are some rare genetic diseases leading to a multisystem damage related to connective tissue fragility. Chronic fatigue and decreased physical endurance are almost constant complaints of patients with MFS. Muscle mass worsens through adolescence, which could explain the bone-mass deficit observed in this population.

Objective

We hypothesize that a personalized exercise rehabilitation program will improve fitness and quality of life (QoL) of these patients.

Methods

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, then at the beginning of the rehabilitation program and at 6 months, with a mid-term evaluation at 3 months.

Results

We included 28 MFS patients between 7 and 20 years (mean 12.8 ± 3.69 years), of which 11 were 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 was found. Significant improvement in first ventilatory-threshold was achieved (+15.8% of expected value; P < 0.05), alongside an increase in maximal sustained workload with a mean of +24.5 Watts (17.37–31.63; P < 0.05) associated to a significant increase in VO₂ (+131.58 mL.min⁻¹; 30.17–232.99; P < 0.05), whereas maximal heart rate at effort was reduced by 29.95 bpm (16.17–43.73; P < 0.05). Muscular strength gain was shown both by dominant hand-grip (mean +4.3 kg; 2.45–5.2; P < 0.05) and dominant leg strength (+67.33 Nm; 25.08–109.59; P < 0.05). Overall, self and proxy-reported QoL of participants improved (Fig. 1).

Conclusion

Young patients with MFS can safely benefit for a home-based rehabilitation program personalised according to their baseline capacities, improving both their overall fitness, muscular strength and cardiovascular health; with a favourable impact in their global QoL.