Health-Related Quality of Life in Children and Young Adults with Marfan Syndrome

Pediatric Heart Network Investigators, New England Research Institutes

Research output: Contribution to journalArticlepeer-review

22 Scopus citations


OBJECTIVE: To assess health-related quality of life (HRQOL) in a large multicenter cohort of children and young adults with Marfan syndrome 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 Marfan syndrome (5-25 years). PedsQL scores were compared with healthy population norms. The impact of treatment arm (atenolol vs losartan), severity of clinical features, and number of patient-reported symptoms on HRQOL was assessed by general linear models.

RESULTS: Mean PedsQL scores in children (5-18 years) with Marfan syndrome were lower than healthy population norms for physical (P ≤ .003) and psychosocial (P < .001) domains; mean psychosocial scores for adults (19-25 years) were greater than healthy norms (P < .001). HRQOL across multiple domains correlated inversely with frequency of patient-reported symptoms (r = 0.30-0.38, P < .0001). Those <18 years of age with neurodevelopmental disorders (mainly learning disability, attention-deficit/hyperactivity disorder) had lower mean PedsQL scores (5.5-7.4 lower, P < .04). A multivariable model found age, sex, patient-reported symptoms, and neurodevelopmental disorder 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 Marfan syndrome were at high risk for impaired HRQOL. Patient-reported symptoms and neurodevelopmental disorder, but not treatment arm or severity of Marfan syndrome-related physical findings, were associated with lower HRQOL.

Original languageEnglish (US)
Pages (from-to)250-255.e1
JournalJournal of Pediatrics
StatePublished - Jan 2019

Bibliographical note

Funding Information:
Supported by grants from the Marfan Foundation and the Pediatric Heart Network Nursing Research Program, by U01 grants from the National Heart, Lung, and Blood Institute (HL068269, HL068270, HL068279, HL068281, HL068285, HL068292, HL068290, HL068288, and HL085057) and by the Food and Drug Administration Office of Orphan Products Development. The contents of this paper are solely the responsibility of the authors and do not necessarily represent the official views of the National Institutes of Health or the National Heart, Lung, and Blood Institute. The authors declare no conflicts of interest.

Publisher Copyright:
© 2018 Elsevier Inc.


  • neurodevelopmental disorders
  • patient-reported symptoms
  • Antihypertensive Agents/therapeutic use
  • Severity of Illness Index
  • Health Status Indicators
  • Humans
  • Child, Preschool
  • Male
  • Marfan Syndrome/complications
  • Young Adult
  • Adolescent
  • Quality of Life
  • Adult
  • Female
  • Losartan/therapeutic use
  • Child
  • Atenolol/therapeutic use
  • Patient Reported Outcome Measures

PubMed: MeSH publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Randomized Controlled Trial
  • Multicenter Study
  • Journal Article
  • Research Support, N.I.H., Extramural


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