Marfan’s syndrome

In station 5 you may be asked to assess a patient with chest pain, breathlessness, visual disturbance etc.


HISTORY (3 minutes):

  • Cardio systems review: chest pain etc.
  • Resp systems review: cough, SOB etc.
  • Skin changes, joint hypermobility, eye problems
  • Height, flat feet
  • Neuro screen: weakness, sensory disturbance, bowel/bladder disturbance (dural ectasia)
  • PMH, Fx, Dx, Sx


Examine (3 minutes):



  • Height, arm span (increased arm span to height ratio)
  • Observe for kyphoscoliosis
  • Observe for pes planus


  • Hands and arms: arachnodactyly (wrist sign and thumb sign), collapsing pulse (AR), peripheral stigmata of infective endocarditis, BP (wide pulse pressure)
  • Face: long and narrow
  • Eyes: blue sclerae, iridodonesis (vibration of the iris with eye movement) should raise the concern for ectopia lentis, cataract, enopthalmos, VA (myopia) and fundoscopy if reports of visual disturbance
  • Mouth: high-arched palate, crowded teeth
  • Chest: pectus excavatum/carinatum, scars from chest drain/surgery (aortic aneurysm repair), auscultate lungs (pneumothorax), auscultate heart sounds (AR, MVP)
  • Abdo: striae, offer to assess for inguinal herniae
  • Legs: neuro assessment for weakness, sensation (dural ectasia)


ICE+Explanation (2 minutes)




An inherited connective tissue disorder

Mutation in FBN1 gene encoding fibrillin-1 protein on chromosome 15

Autosomal dominant

1 in 5000

Risk of aortic dissection/aneurysm/regurgitation.

Also associated with risk of infective endocarditis, mitral valve prolapse

Systems involved: CVS, ocular, musculoskeletal, respiratory, skin, CNS

Be familiar with the Revised Ghent criteria for diagnosis.  This focuses on the features listed below:

  • Family history of Marfan’s syndrome
  • Aortic root dilatation/dissection and ectopia lentis = the cardinal features of Marfan’s
  • FBN1 mutation
  • Systemic score: wrist sign, thumb sign, pectus carinatum/excavatum, pes planus, pneumothorax, dural ectasia, protrusion acetabula, increased arm span/height ratio, reduced upper segment/lower segment ratio, scoliosis or thoracolumbar kyphosis, reduced elbow extension, facial features (dolichocephaly, enophthalmos, downslanting palpebral fissures, malar hypoplasia, retrognathia), skin striae, myopia, mitral valve prolapse


Differential Diagnoses:


  • Homocystinuria (downward lens dislocation, cognitive involvement, recurrent thrombosis, no heart involvement)
  • MEN 2b (Marfanoid body habitus, mucosal neuromas, medullary thyroid cancer, phaeochromocytoma, no eye/heart involvement)
  • Ehlers-Danlos (see “Station 5 Ehlers-Danlos syndrome”)
  • MASS phenotype (mitral valve prolapse, borderline but no progressive aortic dilatation, striae atrophica, and at least one skeletal feature)





CXR (widened mediastinum, pneumothorax)


Genetic testing




Ophthalmology and cardiology assessments

Regular aortic surveillance (annual echo to look at aortic root diameter and aortic dilatation). Beta-blockers and ARBs reduce dilatation and delays surgery

Control BP

Avoid high-intensity exercise

May need aortic root repair (≥ 45mm)/ aortic valve replacement

Screen family members


Written by Dr Sarah Kennedy


Resources used to write this document include those listed in the references section of this webpage and also:


Marfan’s Syndrome