Université Paris Cité, URP 3625-Institut des Sciences du Sport Santé de Paris (I3SP) Paris France.
Centre national de référence pour le syndrome de Marfan et pathologies apparentés Assistance Publique-Hôpitaux de Paris, Hôpital Bichat Paris France.
J Am Heart Assoc. 2024 Oct;13(19):e033024. doi: 10.1161/JAHA.123.033024. Epub 2024 Sep 18.
Marfan syndrome (MFS) is a genetic disorder affecting the vascular and musculoskeletal systems. Limited knowledge exists regarding the exercise benefits for this population. This study aimed to explore the impact of a structured exercise program on the quality of life (QoL) and physical capabilities of patients with MFS.
This was a randomized, controlled, parallel-group trial. Patients with MFS were randomized in a 1:1 ratio to either a training group or a control group. The trial included a 3-month online supervised training program. Seventy patients with MFS were compared with healthy subjects. They were randomized into a training group (MFS-T) and a control group (MFS-C). The training consisted of 2 supervised online sessions weekly for 3 months. The primary outcome was QoL, assessed using the Medical Outcomes Study Short-Form 36 questionnaire. Baseline QoL in all dimensions was lower in patients with MFS. Their peak oxygen uptake was 25% lower, and muscle elasticity was diminished compared with healthy subjects. Postintervention, significant improvements were observed in the MFS-T group relative to the MFS-C group: QoL (+20.2±14.3 versus +0.7±0.5), peak oxygen uptake (+34% versus +14%), muscle elasticity index (11.5±8.2 versus +1.2±1.7), reduced blood pressures during isometric squats (systolic -19±30 versus 0±6; diastolic -27±39 versus +2±15), and reduced pulse wave velocity at rest (-1.20±1.89 versus -0.40±1.61) and postexercise (-0.42±0.45 versus +0.08±0.48). The aortic diameter remained stable in both groups (MFS-T-0.19±1.1 versus MFS-C+0.11±0.78). After training, QoL remained lower in MFS-T than in healthy subjects, but peak oxygen uptake, pulse wave velocity at rest, and postexercise were similar to those of healthy subjects.
The 3-month online training program significantly enhanced QoL and cardiovascular/muscular metrics in patients with MFS without affecting aortic root diameter, suggesting its potential as part of a management strategy for MFS.
URL: https://www.clinicaltrials.gov; Unique identifier: NCT04553094.
马凡综合征（MFS）是一种影响血管和肌肉骨骼系统的遗传性疾病。目前对于该人群的运动益处知之甚少。本研究旨在探讨结构化运动方案对 MFS 患者生活质量（QoL）和身体能力的影响。
这是一项随机、对照、平行组试验。MFS 患者按 1:1 的比例随机分为训练组或对照组。试验包括 3 个月的在线监督训练计划。70 名 MFS 患者与健康受试者进行比较。他们被随机分为训练组（MFS-T）和对照组（MFS-C）。训练包括每周 2 次在线监督训练，持续 3 个月。主要结局是使用医疗结局研究短表单 36 问卷评估的 QoL。所有维度的基线 QoL 在 MFS 患者中均较低。他们的峰值摄氧量低 25%，肌肉弹性较健康受试者差。干预后，与 MFS-C 组相比，MFS-T 组有显著改善：QoL（+20.2±14.3 与+0.7±0.5）、峰值摄氧量（+34%与+14%）、肌肉弹性指数（11.5±8.2 与+1.2±1.7）、等速深蹲时降低血压（收缩压-19±30 与 0±6；舒张压-27±39 与+2±15）、静息时降低脉搏波速度（-1.20±1.89 与-0.40±1.61）和运动后（-0.42±0.45 与+0.08±0.48）。两组的主动脉直径均保持稳定（MFS-T-0.19±1.1 与 MFS-C+0.11±0.78）。训练后，MFS-T 患者的 QoL 仍低于健康受试者，但峰值摄氧量、静息时脉搏波速度和运动后与健康受试者相似。
3 个月的在线训练方案显著提高了 MFS 患者的 QoL 和心血管/肌肉指标，而不影响主动脉根部直径，提示其可能成为 MFS 管理策略的一部分。
