How is the Body Affected?

Marfan syndrome and related disorders affect the body’s connective tissue by weakening it. Connective tissue is found throughout the body, holding it together and plays a role in its growth and development. Thus, Marfan syndrome and related disorders can affect many parts of the body, including the heart and blood vessels, bones and joints, eyes, skin, and lungs. Marfan syndrome has “variable expression” meaning that some individuals with Marfan syndrome have many of the features listed below while others have very few and some have only mild symptoms while others are more severely affected. The following are the body systems most often affected by Marfan syndrome. Fortunately most of the problems associated with the condition can be effectively managed if they are recognized early.

Heart and Blood Vessels (Cardiovascular System)

The most serious problems associated with Marfan syndrome involve the cardiovascular system.

• Aortic dilation and aneurysm

• Aortic dissection

• Mitral Valve Prolapse

• Aortic Regurgitation

Bones and Joints (Skeletal System)

• Long arms and legs

• Tall and thin body type and/or long narrow face

• Long, thin fingers

• Scoliosis or Kyphosis – curvature of the spine

• Pectus Carinatum or Pectus Excavatum – chest bone that protrudes outwards or curves inward respectively

• Flat feet

• Crowded teeth

• Flexible joints

• High-arched palate

Eyes (Ocular System)

• Ectopia Lentis

• Retinal detachment

• Severe Myopia

• Early cataracts

• Early glaucoma

Nervous System

• Dural Ectasia

Lungs

• Sudden lung collapse

• Emphysema

• Asthma

• Sleep apnea

Other Systems

• Stretch marks on the skin that aren’t explained by pregnancy or weight loss/gain