Jouini Steeve, Milleron Olivier, Eliahou Ludivine, Jondeau Guillaume, Vitiello Damien
Institute of Sport and Health Sciences of Paris, Université de Paris, Paris, France.
Laboratory for Vascular Translational Science, Hôpital Bichat-Claude-Bernard, Université de Paris, Paris, France.
Intractable Rare Dis Res. 2021 Nov;10(4):263-268. doi: 10.5582/irdr.2021.01080.
Marfan syndrome (MFS) is an autosomal hereditary pathology affecting 1:5000 peoples. Alteration of the fibrillin 1 gene (FBN1) results in haplo-insufficiency of the FBN1 protein mainly altering the vascular system. 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 training period in these patients. The aim of the present study is to investigate the effect of a 3-month personalized home-based training on quality of life (QoL) of patients suffering from MFS. At least 50 MFS patients were included in the study. They were randomly placed into 4 groups: control group; endurance; resistance and endurance + resistance training groups. The training program lasted 3 months and is performed at patients' home. There were 2 training sessions per week telemonitored by a specialist of physical activity and cardiology. Pre and post-training evaluations were performed at the Bichat-Paris Hospital, France. They consisted of assessing psychometrics based on self-administered questionnaires (FiRST, GPAQ, ISP-25, MOS SF-36) and physiological parameters such as the peak oxygen consumption, aorta diameter, cardiac ventricle function and skeletal muscle power at rest and during exercise. Our preliminary results showed an improvement of 50% in QoL, cardiorespiratory fitness and skeletal muscle power in a patient who completed the combined training program. This experimental approach might be a new alternative way for MFS patients' care that may improve their QoL, cardiorespiratory fitness and skeletal muscle power.
马凡综合征（MFS）是一种常染色体遗传性疾病，发病率为1/5000。原纤维蛋白1基因（FBN1）的改变导致FBN1蛋白单倍体不足，主要影响血管系统。由于其潜在益处，国际指南逐渐允许MFS患者进行训练项目。然而，迄今为止，尚无关于这些患者长期训练效果的数据。本研究的目的是调查为期3个月的个性化居家训练对MFS患者生活质量（QoL）的影响。本研究至少纳入了50例MFS患者。他们被随机分为4组：对照组、耐力训练组、阻力训练组和耐力+阻力训练组。训练项目持续3个月，在患者家中进行。每周有2次训练课程，由体育活动和心脏病学专家进行远程监测。训练前后的评估在法国巴黎比夏医院进行。评估包括基于自我管理问卷（FiRST、GPAQ、ISP-25、MOS SF-36）的心理测量评估，以及静息和运动期间的生理参数，如峰值耗氧量、主动脉直径、心室功能和骨骼肌力量。我们的初步结果显示，完成联合训练项目的一名患者的生活质量、心肺适能和骨骼肌力量提高了50%。这种实验方法可能是MFS患者护理的一种新的替代方法，可能会改善他们的生活质量、心肺适能和骨骼肌力量。
