Millette Theodore J, Ramcharitar Randy K, Monfredi Oliver J, Thomas Matthew J, Conaway Mark R, Dean Peter N
Division of Pediatric Cardiology, Department of Pediatrics, University of Virginia, Charlottesville, VA.
Division of Cardiology, Department of Medicine, University of Virginia, Charlottesville, VA.
Med Sci Sports Exerc. 2025 Feb 1;57(2):260-266. doi: 10.1249/MSS.0000000000003570. Epub 2024 Oct 1.
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 15-35 yr old with syndromic (Marfan syndrome, Loeys-Dietz syndrome, and vascular Ehlers-Danlos syndrome) and nonsyndromic HTAD (nsHTAD).
This cross-sectional study used 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.
Forty patients were enrolled. Mean age was 26 yr. The diagnosis was Marfan syndrome 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 with 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.
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.
患有遗传性胸主动脉疾病（HTAD）的患者通常被限制参加体育活动和某些类型的锻炼。本研究旨在调查终生运动暴露和参加竞技体育对15至35岁患有综合征性（马凡综合征、洛伊茨-迪茨综合征和血管性埃勒斯-当洛综合征）和非综合征性HTAD（nsHTAD）患者生活质量（QOL）的影响。
这项横断面研究使用问卷评估终生运动暴露情况，并采用儿童生活质量量表（PedsQL）。我们制定了运动暴露评分（EES）来量化终生运动暴露情况。通过电话完成问卷，并辅助进行病历审查。
共纳入40例患者。平均年龄为26岁。83%的患者诊断为马凡综合征。尽管88%的患者被医生限制运动，但65%的患者报告参加过竞技体育，93%的患者报告有休闲锻炼。EES高于中位数的参与者与低于中位数的参与者相比总生活质量得分显著更高（78对65，P = 0.03）。当前运动频率与心理社会生活质量（斜率 = 3.9，95%置信区间 = 1.2 - 6.6，P = 0.005）、身体生活质量（斜率 = 8.1，95%置信区间 = 4.1 - 12，P < 0.001）和总生活质量得分（斜率 = 6.0，95%置信区间 = 3.1 - 9.0，P < 0.001）之间存在显著正相关。我们发现EES高于和低于中位数的患者之间，以及参加和未参加竞技体育的患者之间，主动脉大小或手术干预需求没有差异。
尽管存在运动限制，但年轻的HTAD患者仍积极参与体育活动。终生运动增加和当前身体活动水平提高与HTAD患者生活质量改善相关。
