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Marfan's Syndrome

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Other Names



  • First discovered 100 years ago by Antoine-Bernard Marfan


  • Incidence of classic Marfan's Syndrome is 2-3 per 10000 births
  • About 25% of cases are due to de-novo mutations[1]
  • Tall stature leads to increase incidents in athletics, notably volleyball and basketball
    • One study of 415 high school basketball and volleyball players showed that 1% had aortic enlargement and two were diagnosed with Marfan's syndrome[2]


  • Mutation in the fibrillin-1 protein (FBN1) gene results in pathologic fibrillin 1 protein within the extracellular matrix[1]

Risk Factors

  • Genetics
  • Mutation in fribillin 1 (FBN1) gene

Differential Diagnosis

  • Familial thoracic aortic aneurysm syndrome
  • Homocystinuria

Clinical Features

  • General
  • History
  • Physical Exam
    • Musculoskeletal Findings
      • Overgrowth of the long bones (arms and legs)
      • Pectus carinatum or pectus excavatum
      • Arachnodactyly (overgrowth of the fingers)
      • Thoracolumbar scoliosis
      • Pes planes, although a small subset of patients may have exaggerated pes cavus
      • Joint hypermobility
      • Camptodactyly (contracture of the fingers)
    • Ocular
      • Ectopia lentis, or dislocation of the ocular lens
        • Prominent in ~60% of patients
      • Flat cornea
      • Myopia
      • Decreased miosis
  • Special Tests
    • Walker-Murdoch (Wrist Sign)
      • Overlap of the distal of the thumb and fifth finger when wrapped around the wrist
    • Steinberg (Thumb) Sign
      • Distal thumb extends beyond the ulnar border of the hand when folded across the palm[1]


  • Diagnosis is dependent on the clinical criteria known as the Ghent Nosology for Marfan Syndrome which was revised in 2010
  • 2010 Revised Ghent Nosology for Marfan syndrome relies on seven rules
    • Without a family history
      • Aortic Root Dilatation Z score ≥ 2 AND Ectopia Lentis
      • Aortic Root Dilatation Z score ≥ 2 AND FBN1
      • Aortic Root Dilatation Z score ≥ 2 AND Systemic Score ≥ 7pt
      • Ectopia lentis AND a FBN1 mutation associated with Aortic Root Dilatation
    • With a family history
      • Ectopia lentis AND Family History of Marfan syndrome
      • A systemic score ≥ 7 points AND Family History of Marfan syndrome
      • Aortic Root Dilatation Z score ≥ 2 above 20 yrs. old, ≥ 3 below 20 yrs. old + Family History of Marfan syndrome[3]






Rehab and Return to Play


Return to Play


  • Marfan's Syndrome has many cardiovascular manifestations
    • Mitral or tricuspid valve prolapse and regurgitation
    • Congestive heart failure
    • Pulmonary hypertension
    • Calcification of the mitral annulus
    • Aortic valve dysfunction due to stretching of the aortic annulus from aneursm
    • Prolonged QT interval
    • Dilated cardiomyopathy
    • Aortic aneurysm and dissection
      • Most severe and life-threatening [1]

See Also


  1. 1.0 1.1 1.2 1.3 Judge DP, Dietz HC. Marfan's syndrome. Lancet. 2005;366(9501):1965‐1976. doi:10.1016/S0140-6736(05)67789-6
  2. Kinoshita N, Mimura J, Obayashi C, Katsukawa F, Onishi S, Yamazaki H. Aortic root dilatation among young competitive athletes: echocardiographic screening of 1929 athletes between 15 and 34 years of age.Am Heart J. 2000 Apr; 139(4):723-8
  3. Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010;47(7):476‐485. doi:10.1136/jmg.2009.072785
Created by:
John Kiel on 13 June 2019 09:08:46
Last edited:
2 June 2020 04:54:32