Marfan's syndrome

Marfan's syndrome

Marfan's syndrome is an autosomal dominant

Marfan's syndromes is autosomal dominant

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Importance: 3

connective tissue disorder. It is caused by a defect in the FBN1 gene on chromosome 15 that codes for the protein fibrillin-1

Marfan's syndrome is caused by a mutation in a protein called fibrillin-1

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Importance: 50

. It affects around 1 in 3,000 people.

Features

• tall stature with arm span to height ratio > 1.05
• high-arched palate
• arachnodactyly
• pectus excavatum
  pectus excavatum
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• pes planus
  pes planus
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• scoliosis of > 20 degrees
• heart:
  • dilation of the aortic sinuses
    Marfan's syndrome is associated with dilation of the aortic sinuses which may predispose to aortic dissection
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    Importance: 68
    (seen in 90%) which may lead to aortic aneurysm, aortic dissection, aortic regurgitation
  • mitral valve prolapse
    Marfan's syndrome - mitral valve prolapse
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    Importance: 14
    (75%),
• lungs: repeated pneumothoraces
  repeated pneumothoraces
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• eyes:
  • upwards lens dislocation
    Marfan's syndrome - upwards lens dislocation
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    Importance: 45
    (superotemporal ectopia lentis)
  • blue sclera
    Marfan's syndrome - blue sclera
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    Importance: 50
  • myopia
• dural ectasia
  Marfan's syndrome - dural ectasia
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  Importance: 65
  (ballooning of the dural sac at the lumbosacral level)

The life expectancy of patients used to be around 40-50 years. With the advent of regular echocardiography monitoring and beta-blocker/ACE-inhibitor therapy this has improved significantly over recent years. Aortic dissection and other cardiovascular problems remain the leading cause of death however.

+PassMedicine Notes

Marfan's syndrome is an autosomal dominant connective tissue disorder. It is caused by a defect in the FBN1 gene on chromosome 15 that codes for the protein fibrillin-1. It affects around 1 in 3,000 people.

Features

• tall stature with arm span to height ratio > 1.05
• high-arched palate
• arachnodactyly
• pectus excavatum
• pes planus
• scoliosis of > 20 degrees
• heart:
• dilation of the aortic sinuses (seen in 90%) which may lead to aortic aneurysm, aortic dissection, aortic regurgitation
• mitral valve prolapse (75%),
• lungs: repeated pneumothoraces
• eyes:
• upwards lens dislocation (superotemporal ectopia lentis)
• blue sclera
• myopia
• dural ectasia (ballooning of the dural sac at the lumbosacral level)

The life expectancy of patients used to be around 40-50 years. With the advent of regular echocardiography monitoring and beta-blocker/ACE-inhibitor therapy this has improved significantly over recent years. Aortic dissection and other cardiovascular problems remain the leading cause of death however.