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

Research output: Contribution to journalArticle


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.


External organisations
  • Boston Children's Hospital
  • New England Research Institutes
  • C.S. Mott Children's Hospital
  • National Heart Lung and Blood Institute
  • Medical University of South Carolina
  • Hospital for Sick Children, Toronto
  • Ann and Robert H. Lurie Children's Hospital
  • Ghent University Hospital
  • Washington University in St. Louis
  • Cincinnati Children's Hospital Medical Center
  • Morgan Stanley Children's Hospital of New York (CHONY)
  • University of Utah
  • Texas Children’s Hospital
  • Icahn School of Medicine at Mount Sinai
  • Monroe Carell Jr. Children's Hospital at Vanderbilt
  • The Children's Hospital of Philadelphia
  • Children's Hospital and Health System, Milwaukee
  • Children's Hospital and Regional Medical Center, Seattle
  • Children's Hospitals and Clinics of Minnesota
  • University of Pennsylvania
  • Cornell University
  • Duke University
  • Mount Sinai Hospital
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Cardiac and Cardiovascular Systems
  • Pediatrics
Original languageEnglish
Pages (from-to)250-255.e1
JournalJournal of Pediatrics
Publication statusPublished - 2019 Jan
Publication categoryResearch
Externally publishedYes