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Diagnosis in children with Marfan syndrome: red flags for early identification

Leonie Tyvaert1, Simon D'hulst2, Katya De Groote3

  • 1Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.

Archives of Disease in Childhood
|March 31, 2026
PubMed

Insights

Early Marfan syndrome (MFS) diagnosis in children is crucial. Key predictors include family history, aortic root z-score, tall stature, increased arm-span, hindfoot deformity, and ectopia lentis, aiding pediatricians in identifying MFS.

Area of Science:

  • Genetics
  • Pediatrics
  • Cardiology

Background:

  • Marfan syndrome (MFS) is a genetic disorder affecting connective tissue, primarily caused by pathogenic variants in the fibrillin-1 gene (FBN1).
  • MFS can lead to severe cardiovascular complications, including aortic aneurysms and dissections, necessitating early diagnosis and intervention.
  • Recognizing MFS in children presents diagnostic challenges for general pediatricians due to its variable presentation.

Purpose of the Study:

  • To identify common clinical and familial traits in children with MFS.
  • To assist general pediatricians in the early recognition and diagnosis of Marfan syndrome in pediatric patients.
  • To improve early detection of MFS for timely preventive cardiovascular interventions.

Main Methods:

  • Retrospective analysis of 129 children undergoing genetic testing for suspected MFS.
  • Comparison of clinical features, family history, and echocardiographic results between children with and without pathogenic FBN1 variants.
  • Statistical analysis to identify significant predictors of MFS diagnosis.

Main Results:

  • Children with pathogenic FBN1 variants were significantly younger and more likely to meet revised Ghent criteria.
  • Six key predictors for MFS were identified: percentile height, aortic root z-score ≥2, positive family history of aortic disease, increased arm-span, hindfoot deformity, and ectopia lentis.
  • Hindfoot deformity (OR 145.7) and increased arm-span (OR 21.0) were highly significant predictors, alongside ectopia lentis (41% vs 0%).

Conclusions:

  • A combination of clinical findings and family history significantly predicts molecularly confirmed Marfan syndrome in children.
  • Key predictors include positive family history, elevated aortic root z-score, ectopia lentis, tall stature, increased arm-span, and hindfoot deformity.
  • These findings can aid pediatricians in suspecting and referring children for MFS evaluation, enabling earlier diagnosis and management.
Abstract

Keywords:
CardiologyGeneticsPaediatricsSyndrome

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