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Features

Marfan syndrome features occur in many different parts of the body.  A person rarely has every feature. Some Marfan syndrome features are easy to see.  Other features, such as heart problems, are hidden and need special tests to find them. It is important that a person with Marfan features see a doctor who knows about Marfan syndrome.  

What body systems are affected?

What body systems are affected?

Heart and Blood Vessels (Cardiovascular system)

  • Enlarged or bulging aorta, the main blood vessel that carries blood from the heart (aortic dilation or aneurysm)
  • Separation of the layers of the aorta that can cause it to tear (aortic dissection)
  • “Floppy” mitral valve (mitral valve prolapse – MVP)

Bones and Joints (Skeletal system) 

  • Long arms and legs
  • Tall and thin body type
  • Curvature of the spine (scoliosis or kyphosis)
  • Chest sinks in (pectus excavatum) or sticks out/pigeon breast (pectus carinatum)
  • Long, thin fingers
  • Flexible joints
  • Flat feet
  • Teeth that are too crowded

Eyes (Ocular system) 

  • Severe nearsightedness  (myopia)
  • Dislocated lens of the eye
  • Detached retina
  • Early glaucoma
  • Early cataracts

Other Body Systems 

  • Stretch marks on the skin, not explained by pregnancy or weight gain 
  • Sudden collapse of the lung (spontaneous pneumothorax)
  • Swelling of the sac around the spinal column (dural ectasia).  This is found with CT or MRI scans of the back
 
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