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Marfan syndrome — RACP Paediatrics MCQ

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ModerateGeneticsMarfan syndromeRACP Paediatrics

A 14-year-old tall thin boy presents with acute chest pain. He has a pectus excavatum, arm span exceeding height, arachnodactyly with positive wrist and thumb signs, and lens subluxation on eye examination. His father had aortic dissection at age 35. What is the most likely diagnosis?

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Correct answer: A — Marfan syndrome

Tall stature with increased arm span:height ratio, arachnodactyly (positive Steinberg and Walker-Murdoch signs), pectus excavatum, ectopia lentis (upward subluxation of the lens), and a family history of aortic dissection meet revised Ghent criteria for Marfan syndrome (FBN1 gene, autosomal dominant). Regular echocardiographic surveillance for aortic root dilatation is essential.

Reference: RACP Paediatric Curriculum – Genetics/Cardiology; RCH Melbourne – 2023 – Marfan Syndrome CPG