Marfan Syndrome

1
Marfan Syndrome

• Lydia Auch
• Block 2

2
History of Marfans 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 cant 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)

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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

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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

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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- sy
  ndrome.html
• Tullis, J. (n.d.). Living With Marfan Syndrome.
  National Marfan Foundation. Retrieved May 22,
  2010, from http//www.marfan.org/marfan/2439/Livi
  ng-with- Marfan-Syndrome
• Tullis, J. (n.d.). About Marfan Syndrome.
  National Marfan Foundation. Retrieved May 22,
  2010, from http//www.marfan.org/marfan/2280/Abou
  t-Marfan- Syndrome