INTRODUCTION Patients with heritable thoracic aortic disease (HTAD)are often restricted from sports and certain types of exercise. This study was designed to investigate the effect of lifetime exercise exposure and competitive sports participation on quality of life (QOL) in patients aged 15-35 with syndromic [Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS), vascular Ehlers-Danlos syndrome (vEDS)] and non-syndromic heritable thoracic aortic disease (nsHTAD). METHODS This cross-sectional study employed questionnaires to assess lifetime exercise exposure and utilized the PedsQL QOL Inventory. We developed an Exercise Exposure Score (EES) to quantify lifetime exercise exposure. Questionnaires were completed via telephone with complimentary medical record review. RESULTS Forty patients were enrolled. Mean age was 26 years. The diagnosis was MFS in 83%. Despite 88% of patients being restricted by their provider, 65% reported competitive sports participation and 93% reported recreational exercise. Participants with an EES greater than the median had significantly better total QOL scores compared to those below the median (78 vs 65, p = 0.03). There were significant positive correlations between current frequency of exercise and psychosocial QOL (slope = 3.9, 95% CI: (1.2, 6.6), p = 0.005), physical QOL (slope = 8.1, 95% CI: (4.1, 12), p < 0.001), and total QOL score (slope = 6.0, 95% CI: (3.1, 9.0), p < 0.001). We found no difference in aortic size or need for surgical intervention between those above and below the median EES, or between those who did and did not participate in competitive sports. CONCLUSIONS Despite exercise restrictions, young HTAD patients are physically active. Increased lifetime exercise and current physical activity levels were associated with improved QOL in HTAD patients.

中文翻译：

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遗传性胸主动脉疾病年轻患者的锻炼、运动参与和生活质量。


引言 遗传性胸主动脉病 （HTAD） 患者通常被限制进行运动和某些类型的运动。本研究旨在探讨终生运动暴露和竞技运动参与对 15-35 岁综合征 [马凡综合征 （MFS）、Loeys-Dietz 综合征 （LDS）、血管性 Ehlers-Danlos 综合征 （vEDS）] 和非综合征性遗传性胸主动脉病 （nsHTAD） 患者生活质量 （QOL） 的影响。方法 这项横断面研究采用问卷调查来评估终生运动暴露，并使用 PedsQL QOL 量表。我们开发了运动暴露评分 （EES） 来量化终生运动暴露。问卷通过电话完成，并附有免费的病历审查。结果 共纳入 40 例患者。平均年龄为 26 岁。诊断为 83% 的 MFS。尽管 88% 的患者受到提供者的限制，但 65% 的患者报告参与竞技运动，93% 的患者报告娱乐性锻炼。与低于中位数的参与者相比，EES 大于中位数的参与者的 QOL 总分显着更高 （78 vs 65，p = 0.03）。当前运动频率与社会心理 QOL （斜率 = 3.9,95% CI： （1.2， 6.6），p = 0.005）、身体 QOL （斜率 = 8.1,95% CI： （4.1， 12），p < 0.001） 和总 QOL 评分 （斜率 = 6.0,95% CI： （3.1， 9.0），p < 0.001 之间存在显著的正相关。我们发现高于和低于中位 EES 的患者之间，或参加和不参加竞技运动的患者之间，主动脉大小或手术干预需求没有差异。结论 尽管运动受到限制，但年轻的 HTAD 患者身体活跃。 终生运动和当前身体活动水平的增加与 HTAD 患者生活质量的改善相关。