Abstract 9979: Health-Related Quality of Life in Children With Marfan Syndrome

Abstract

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.

Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study

“…Surprisingly, no signi cant association was found between HRQoL and ocular impairment (ectopia lentis) whatever the severity, which is in line with other studies performed in children (19) and adults with MFS (7,8,13,17,18).…”

“…Only a few studies have evaluated HRQoL in the pediatric MFS population (19)(20)(21)(22). The results of these studies are sometimes divergent and di cult to compare notably because of differing scales used to measure HRQoL.…”

“…In these adult studies, psychological and social factors were more strongly correlated with HRQoL than factors related to the severity of the disease. Conversely, the few studies that have evaluated HRQoL in children and adolescents with MFS (19)(20)(21)(22) show divergent results, with normal or impaired HRQoL in children with MFS, and were di cult to compare, notably because of different scales used to measure HRQoL. In these pediatric studies, as in most adult studies, the lack of systematic molecular diagnosis of MFS makes any genotype-phenotype correlation analysis impossible.…”

Evaluation of functional vision and eye-related quality of life in children with congenital ectopia lentis: a prospective cross-sectional study

“…Additionally, we directly measured child-reported ER-QOL and found scores were significantly lower across ‘bothered by eyes/vision’, ‘social’ and ‘frustration/worry’ domains compared with visually normal controls, confirming that children with lens dislocation experience a range of QOL concerns in their everyday life. Handisides et al have also reported lower overall, psychosocial and physical HRQOL among children and adolescents with MFS using the PedsQL Generic Core Scales 30. Notably, apart from MFS patients, there are still part of CEL children experiencing ocular and other systematic abnormalities.…”

In VivoPhenotypic Vascular Dysfunction Extends Beyond the Aorta in a Mouse Model for Fibrillin-1 (FBN1) Mutation

“…9,10,12 In addition to accelerated vascular aging, MFS patients experience other age-related changes such as worsening of joint pain and stiffness, vision problems, hearing loss, skin elasticity, and lung complications. 1,2,[19][20][21] Evaluation of these aging-related characteristics requires further investigations, given that the mechanisms known to contribute to MFS-associated symptomology are also implicated in aging-related manifestations such as inflammation, ROS production, arterial remodeling, and elastolysis.…”