1. Marfan Syndrome
Lydia Auch
Block 2

2. History of Marfan’s Syndrome
The disorder was first logged as a medical condition called arachnodacryly in 1896 by Antonie Marfan.
His findings however, had been suggested 20 years earlier by a doctor in Ohio.
It was named arachnodacryly, from the Greek word for “spider”, arachne because of the long digits of those with Marfans.
Today, the National Marfan Foundation is leading research.
Anyone can be affected.

3. Diagnosis
Scientists have discovered what mutation causes Marfan Syndrome (MFS)
However, a genetic test alone can’t tell determine if you have MFS or not.
So, diagnosis is made through a clinical evaluation such as an arm span greater than height.
There are certain diagnostic criteria that are compared to a persons test results, history and physical examination.

4. Diagnosis (Cont.)

5. Transmission
MFS is caused by a mutation in the gene that tells the body how to make fibrillin-1.
This results in an increase in a protein that causes problems in the connective tissue throughout the body.
People most commonly inherit MFS but 1 in 4 have a spontaneous mutation.
There is a 50% chance of passing on MFS

6. Signs and Symptoms 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
(National Marfan Foundation, 2010)

7. Treatment
Heart-Valve-Sparing Surgery-Part of the aorta is taken out and replaced with a woven tube but the persons aortic valve is left in place and attached to the tube.
Advantages
Do not need to take blood thinning medication.
No risk of forming clots
Fewer concerns about becoming pregnant
Disadvantages
Newer procedure and less experience
Not available in all parts of the country
Not an option for everyone.

8. Treatment (Cont.)
Scoliosis- Spinal Surgery – Needed because of abnormally loose ligaments of the spine. Surgery involves straightening the spine and fusing it in place.
Advantages
Usually Successful
Patient can transfer own blood
Disadvantages
Rods can come loose
Nerve damage

9. Treatment (Cont.)
Eye Surgery – Lens Removal - Usually needed for lens dislocation, progressive cataracts, and uncorrectable vision.
Advantages
Help balance pressures in the eye
Prevent permanent blindness
Disadvantages
Raises the risk of retinal detachment
Risky and technically difficult

10. Reference List
Beers, M. H. (2004). The Merck Manual of Medical Information: Second Home Edition (Merck Manual of Medical Information, Home Ed.). New York.
Marfan's syndrome, Information about Marfan's syndrome. (n.d.). Internet FAQ Archives - Online Education. Retrieved May 22, 2010, from syndrome.html
Tullis, J. (n.d.). Living With Marfan Syndrome. National Marfan Foundation. Retrieved May 22, 2010, from Marfan-Syndrome
Tullis, J. (n.d.). About Marfan Syndrome. National Marfan Foundation. Retrieved May 22, 2010, from Syndrome