Marfan Syndrome: Clinical Features by System

Diagnostic Criteria (Ghent Nosology)

Requires combination of major/minor criteria across systems + FBN1 mutation or family history.

System Manifestations

Musculoskeletal (Major Criteria)

• Arachnodactyly (wrist/thumb signs)
• Pectus excavatum/carinatum
• Scoliosis >20° or spondylolisthesis
• Protrusio acetabuli
• Reduced US/LS ratio, increased arm/height

Cardiovascular (Major Criteria = Aortic Root Dilation Z≥2 + Dissection)

• Aortic root aneurysm (sinuses of Valsalva)
• Aortic dissection (tearing chest/back pain — EMERGENCY)
• Mitral valve prolapse ± regurgitation

Ocular (Major Criterion = Ectopia Lentis)

• Lens subluxation (superotemporal)
• High myopia, flat cornea
• Retinal detachment risk

Other

• Dural ectasia (lumbosacral) — imaging criterion
• Striae atrophicae (non-obesity)
• Pneumothorax (apical blebs)
• Fatigue, chronic pain, anxiety/depression (secondary)

Management

• Annual aortic imaging (echo → CTA/MRA)
• β-blockers (atenolol) / ARBs (losartan) — slow aortic growth
• Activity restriction (no competitive/contact sports)
• Multidisciplinary: cardiology, genetics, ophthalmology, orthopedics