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Key Features

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  • Skeletal abnormalities (Ghent criteria)

  • Lens dislocation

  • Dilation of the aortic root

  • Dural ectasia

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Clinical Findings

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  • Positive family history

  • Suspicious skeletal findings

  • Ophthalmologic complications

  • Spontaneous pneumothorax

  • Dysrhythmias may be present

  • Characteristic facies

    • Long and thin

    • Down-slanting palpebral fissures

    • Malar flattening and retrognathia

  • Palate is high arched, and dentition is often crowded

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Diagnosis

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  • Clinical; based on the Ghent criteria (available at: http://www.genereviews.org).

  • Genetic testing is available

  • Differential diagnosis

    • Homocystinuria

    • Lujan syndrome

    • Ehlers-Danlos syndrome

    • Stickler syndrome

    • Beals syndrome

    • Shprintzen-Goldberg syndrome

    • Aneurysm-osteoarthritis syndrome

    • Syndromic thoracic aortic aneurysms

    • Loeys-Dietz syndrome

  • Families and practitioners seeking additional information about Marfan syndrome can be referred to the National Marfan Foundation (http://www.marfan.org).

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Treatment

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  • Surveillance for and appropriate management of the ophthalmologic, orthopedic, and cardiac issues

  • Prophylactic β-adrenergic blockade can slow the rate of aortic dilation and reduce the development of aortic complications

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Outcome

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Follow-Up
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  • Serial echocardiograms are indicated to diagnose and follow the degree of aortic root enlargement, which can be managed medically or surgically, in more severe cases

  • Regular ophthalmologic surveillance for lens dislocation is necessary

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Complications
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  • Skeletal problems including scoliosis are progressive

  • Astigmatism and myopia are very common

  • Mitral valve prolapse

  • Progressive aortic root dilation, which may lead to aneurysmal rupture and death

  • Progressive or acute valvular (aortic more frequently than mitral) incompetency

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Reference

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Kumar  A, Agarwal  S: Marfan syndrome: an eyesight of syndrome. Meta Gene 2014 Jan 14;2:96–105
[PubMed: 25606393] .
CrossRef

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