Marfan Syndrome

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 • 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) 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

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 http://www.faqs.org/health/topics/14/Marfan-s- syndrome.html • Tullis, J. (n.d.). Living With Marfan Syndrome. National Marfan Foundation. Retrieved May 22, 2010, from http://www.marfan.org/marfan/2439/Living-with- Marfan-Syndrome • Tullis, J. (n.d.). About Marfan Syndrome. National Marfan Foundation. Retrieved May 22, 2010, from http://www.marfan.org/marfan/2280/About-Marfan- Syndrome