Objectives To assess self-reported quality of life (QOL) in a large multicenter cohort of adolescent and young adults surviving Fontan. Study design Cross-sectional. The Pediatric Quality of Life Inventory (PedsQL) was administered to 408 survivors of Fontan ages 13–25 years enrolled in the Pediatric Heart Network Fontan Follow-up Study. Subjects also completed either the Child Health Questionnaire (CHQ-87, age < 19years) or Short Form 36 (SF-36, age ≥19 years). PedsQL data were compared with matched controls without a chronic health condition. Correlations between the measures were examined. Results Mean PedsQL scores for subjects receiving Fontan were significantly lower than those for the control group for physical and psychosocial QOL (P<0.001). Overall, 45% of subjects receiving Fontan had scores in the clinically significant impaired range for physical QOL with 30% in the impaired range for psychosocial QOL. For each 1 year increase in age, the physical functioning score decreased by an average of 0.76 points (p=0.004) and the emotional functioning score decreased by an average of 0.64 points (p=0.03). Among subjects ≥ 19 years of age, the physical functioning score decreased by an average of 2 points for each year increase in age (p=0.02). PedsQL scale scores were significantly correlated with conceptually related CHQ-87 (p<0.001) and SF-36 scores (p<0.001). Conclusions Survivors of Fontan are at risk for significantly impaired QOL which may decline with advancing age. Routine assessment of QOL is essential to inform interventions to improve health outcomes. The PedsQL allowed QOL assessment from pediatrics to young adulthood. Trials Registration ClinicalTrials.gov: NCT00132782.

Objective To assess health-related quality of life (HRQOL) in a large multicenter cohort of children and young adults with Marfan syndrome (MFS) participating in the Pediatric Heart Network Marfan Trial. Study design The Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales were administered to 321 subjects with MFS (5–25 years). PedsQL scores were compared with healthy population norms. The impact of treatment arm (atenolol versus losartan), severity of clinical features, and number of patient-reported symptoms (PRS) on HRQOL was assessed by general linear models. Results Mean PedsQL scores in children (5–18 years) with MFS were lower than healthy population norms for physical (P ≤ .003) and psychosocial (P<0.001) domains; mean psychosocial scores for adults (19–25 years) were higher than healthy norms (P<0.001). HRQOL across multiple domains correlated inversely with frequency of PRS (r=0.30–0.38, P<0.0001). Those <18 years of age with neurodevelopmental disorders (ND, mainly learning disability, attention deficit disorder and/or hyperactivity) had lower mean PedsQL scores (5.5–7.4 lower, P<0.04). A multivariable model found age, sex, PRS, and ND to be independent predictors of HRQOL. There were no differences in HRQOL scores by treatment arm, aortic root z-score, number of skeletal features, or presence of ectopia lentis. Conclusions Children and adolescents with MFS were at high risk for impaired HRQOL. PRS and ND, but not treatment arm or severity of MFS-related physical findings, were associated with lower HRQOL.

Background: Marfan syndrome (MFS) is an autosomal dominant disorder that affects the heart, aorta, eyes, skeleton, lungs, and other organs. Objective: To assess quality of life (QL) in a large multicenter cohort of children with MFS. Methods: The Pediatric Quality of Life Inventory (PedsQL) was administered to 256 subjects with MFS ages 5-18 years as an ancillary study to the Pediatric Heart Network’s Marfan Trial, which compared the effects of atenolol vs. losartan on aortic root growth. PedsQL scores were compared to population norms by one-sample t-tests. Scores > 1 SD below the population sample mean represent at-risk status for impaired health-related QL. The impact of treatment arm (atenolol vs. losartan), severity of clinical features, and patient-reported symptoms on QL was assessed by general linear models. Results: The subjects had a mean age of 11.8±3.9 years and were 62% male, 84% white, and 88% non-Hispanic. Mean PedsQL scores for MFS subjects were significantly lower than population norms. Overall, scores were in the impaired range for physical QL and psychosocial QL in 34% and 27% of subjects, respectively. QL across multiple domains correlated negatively with frequency of patient-reported symptoms (r=0.32-0.40, p<.0001). Subjects with a reported neurodevelopmental disorder (mainly learning disability, attention deficit disorder, and/or hyperactivity) had lower mean QL scores (5.5-7.4 lower, p<.04). There were no significant differences in QL scores between treatment arms. We found no significant association between QL and aortic root z-score, extent of skeletal involvement, or presence of ectopia lentis. Conclusions: Children with MFS are at risk for impaired QL. Higher number of patient-reported symptoms had the greatest negative impact on QL, rather than treatment arm or severity of cardiac, skeletal, or ocular findings. Future interventions to address patient symptoms and neurodevelopmental disorders could improve QL for children with MFS.