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Study of phenotype evolution during childhood in Marfan syndrome to improve clinical recognition

Chantal Stheneur1, Florence Tubach2, Marlène Jouneaux3

  • 11] AP-HP, Hôpital Bichat, Centre National de Référence pour le syndrome de Marfan et apparentés, Paris, France [2] AP-HP, Hôpital Ambroise Paré, Service de Pédiatrie, Boulogne, France.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|September 7, 2013
PubMed

Insights

Marfan syndrome diagnosis in children evolves with age. Ectopia lentis and aortic dilatation are key indicators, while tall stature (>3.3 SD) is a simple sign for doctors.

Area of Science:

  • Genetics and Pediatrics
  • Connective Tissue Disorders
  • Clinical Diagnosis

Background:

  • Marfan syndrome diagnosis in infants is challenging.
  • Understanding the age-related phenotypic changes is crucial for early detection and management.
  • The FBN1 gene mutation is a primary cause of Marfan syndrome.

Purpose of the Study:

  • To describe the age-related evolution of Marfan syndrome phenotype in a large pediatric cohort.
  • To identify key discriminating features for Marfan syndrome diagnosis across different age groups.

Main Methods:

  • Compared 259 children with Marfan syndrome (FBN1 mutation, Ghent criteria) to 474 non-Marfan children.
  • Analyzed the prevalence of various clinical features at different ages.
  • Assessed the diagnostic value of height, ectopia lentis, and aortic dilatation.

Main Results:

  • Skeletal features like pectus deformity, wrist signs, and scoliosis increased with age.
  • Hypermobility and pes planus decreased with age; striae increased significantly.
  • Ectopia lentis and aortic root dilatation remained consistently prevalent (66-72% and 75-80%, respectively).
  • Aortic root dilatation was stable with beta-blocker therapy.
  • Height >3.3 SD above mean, ectopia lentis, and aortic dilatation were significant discriminating factors.

Conclusions:

  • Ectopia lentis and aortic dilatation are the most reliable diagnostic features for Marfan syndrome.
  • Abnormally tall stature (>3.3 SD) serves as a practical screening tool for general practitioners.
  • Early beta-blocker therapy can stabilize aortic dilatation in pediatric Marfan syndrome patients.
Abstract

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