Exercise, Sports Participation, and Quality of Life in Young Patients with Heritable Thoracic Aortic Disease.

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 15-35 yr old with syndromic (Marfan syndrome, Loeys-Dietz syndrome, and vascular Ehlers-Danlos syndrome) and nonsyndromic HTAD (nsHTAD).

Methods: 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.

Results: 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.

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.