Table of Contents
Marfan syndrome is a genetic disorder of connective tissue primarily affecting the skeletal system, eyes and cardiovascular system.
Clinical features
- General
- Tall and thin
- Scoliosis
- Upper limbs
- Arachnodactyly (ask them to wrap their fingers around their wrist)
- Wide arm span
- Hyperextensible joints
- Face
- Long thin face
- Myopia/lens dislocation
- High-arched palate
- Chest and abdomen
- Pectus carinatum/excavatum
- Stretch marks
- Auscultate heart for murmurs (especially aortic regurgitation)
- Lower limbs
- Long legs
- Flat feet
Diagnosis
- Genetic tests – diagnostic
Management
- No cure
- Symptomatic treatment
- Prevention of and surveillance for complications
- Multidisciplinary team regular check ups
- Annual echocardiogram (to assess aortic root and heart valves)
- 5-yearly MR/CT aorta (to asses whole aorta)
- β-blockers (to prevent aortic dilatation)
- Composite valve conduit/aortic root graft replacement (for aortic dilatation)
- Regular eye examinations
- Screening of family members
Test yourself!
What is the cause of Marfan syndrome?
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What are the possible complications?
Eyes: lens dislocation (50%), myopia
Weak thoracic aorta: aneurysms, dissection
Valves: aortic regurgitation, mitral prolapse/regurgitation
What conditions may cause joint hypermobility?
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