Marfan Syndrome

1
Marfan Syndrome

• By Jorge Duque
• Yanet Enriquez
• Arianna Fernandez
• Nadia Fefry
• Yaneeke Holliman

2
Answer to the Riddle

• John Ritter
• Actor.
• Was in a show called Three's Company from
  1977-1984.
• In 1993, died from an aortic dissection caused by
  Marfan Syndrome.
• Rent
• Play created by Jonathan Larson.
• He died in 1996 from an aortic dissection caused
  by Marfan Syndrome.
• Abraham Lincoln
• was believed to have Marfan Syndrome (long
  limbs).

3
Disease/Condition

• Named after Antoine Marfan in 1899.
• Marfan syndrome is an autosomal dominant genetic
  disorder of the connective tissue.
• The connective tissue is defective.
• It can affect many body systems, structures and
  organs including
• the skeleton, eyes, heart and blood vessels,
  nervous system, skin, lungs, the dural sac
  surrounding the spinal cord, and hard palate.
• It affects men, women, and children.
• Found among people of all races and ethnic
  backgrounds.
• 1 in 5,000 people in the United States have the
  disorder.
• Disorder progresses as the person ages.

4
Characteristics/Clinical Manifestation

• Unusually long limbs, great stature, or long toes
  (or fingers) in proportion to the person's
  height,
• Predisposition to cardiovascular disease.

5
Characteristics/Clinical Manifestation Cont.

• John Ritter and Jonathan Larson had problems
  associated with the cardiovascular system and
  both died from aortic dissection.
• Most people with Marfan syndrome have problems
  associated with the cardiovascular system the
  heart and blood vessels.
• The valve between the left chambers of the heart
  is defective and may be large and floppy.
• The valve may leak, creating a "heart murmur,"
• Symptoms include shortness of breath, fatigue and
  palpitations (a very fast or irregular heart
  rate).
• The wall of the aorta may be weakened and
  stretch, a process called aortic dilation.
• Aortic dilation increases the risk that the aorta
  will tear (dissect) or rupture, causing serious
  heart problems or sometimes sudden death (aortic
  dissection).

6
Characteristics/Clinical Manifestation Cont.

• Abraham Lincoln was believed to have Marfan
  Syndrome due to problems associated with the
  Skeleton.
• Typically, but not always, very tall or taller
  with slender and loose jointed.
• Affects the long bones of the skeleton.
• Therefore the arms, legs, fingers, and toes may
  be disproportionately long in relation to the
  rest of the body
• Long, narrow face, and the roof of the mouth may
  be arched, causing the teeth to be crowded.
• Other skeletal abnormalities include a sternum
  (breastbone) that is either protruding or
  indented, curvature of the spine (scoliosis), and
  flat feet.

7
Treatment

• Treatment options can minimize and sometimes
  prevent complications.
• Heart and blood vessels-
• Regular checkups and echocardiograms
• The earlier a potential problem is identified and
  treated, the lower the risk of life-threatening
  complications.
• Wear a medical alert bracelet and to go to the
  emergency room if they experience chest, back or
  abdominal pain.
• Drugs such as beta-blockers,
• Surgery
• Following heart surgery, extreme care must be
  followed to prevent endocarditis.
• Dentists should be alerted to this risk.

8
Treatment (Cont.)

• Skeletal-
• Annual evaluations are important to detect any
  changes in the spine or breastbone (sternum).
• In some cases, an orthopedic brace or surgery may
  be recommended.

9
References

• Information retrieved from Google search using
  the key word Marfan Syndrome on May 14, 2007.
• Web Sites
• http//www.marfan.org/
• http//www.allaboutarthritis.com/image/stock_image
  /marfan_syndrome02.jpg
• http//www.medstudents.com.br/original/revisao/mar
  fan/marfan.jpg
• http//www.google.com/search?sourceighlenqmar
  fansyndrome
• http//en.wikipedia.org/wiki/Marfan_syndrome