Marfan Syndrome

· Marfan Syndrome is a genetic disorder affecting the formation of the protein fibrillin.

· Overview
Marfan Syndrome is common and affects 1 in 5000 people.
The protein fibrillin is important in the formation of blood vessels, parts of the eyes and the skeleton.  The Marfan Syndrome results in the abnormal formation bones, weak blood vessels and eye abnormalities.

· Types
There are 2 basic types of Marfan Syndrome.
· Marfan Syndrome Type 1 affects the formation of the skeleton, blood vessels and eyes.
· Marfan Syndrome Type 2 affects the formation of the skeleton and blood vessels and does not affect the eyes

· Symptoms
Symptoms of Marfan Syndrome vary significantly.

· Common signs of Marfan Syndrome include:
Scoliosis
Mitral valve prolapse (affecting about 85% of people with Marfan Syndrome)
Chest wall deformities such as a depression of the sternum(prectus excavatum) or protrusion of the sternum(precuts carinatum)
Aortic valve regurgitation
Aortic root dilation and risk of aortic dissection (aneurysm)
Excessively long extremities
People with Marfan Syndrome tend to be tall compared to the other members of their family.
Fingers and hands tend to be long and slender and may have a spider-like appearance (arachnodactyly)
Eyes problems such a retinal detachment, lens dislocation, and severe nearsightedness

· Complications
People with Marfan syndrome may die from aortic dissection(aneurysm)  or congestive heart failure.

· Treatment
There is no cure for Marfan syndrome.  Treatment for encompasses controlling the complications of Marfan syndrome such as treating patients with blood pressure medications such as beta blockers to protect against aortic aneurysms.

References
Marfan syndrome and related disorders. In: Emery and Rimoin’s Principles and Practice of Medical Genetics, 5th ed. Rimoin DL et al (editors). Churchill Livingstone, 2007.

Posted on May 4, 2010

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