Marfan Syndrome

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Marfan Syndrome

• By ..

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Cause

• Caused by a mutation in the FBN1 gene that
  determines the structure of fibrillin
• Fibrillin is a protein that is an important part
  of connective tissue and elastic fibers which
  affect multiple parts of the body such as bones,
  joints, eyes, blood vessels, and heart

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Symptoms

• Long and skinny arms ands legs leading to the arm
  span being longer than height, nearsighted,
  dislocation of one or both lenses of the eye,
  super arched mouth which leads to very crowded
  front teeth, intruding chest bone, weak hearts,
  pain in the abdomen

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More Symptoms

• Weak legs, increased risk of hernia, flat feet,
  scoliosis, long and skinny fingers and toes,
  stretch marks, swollen and stretched air sacks in
  the lungs which increases the risk of lung
  collapse, defective heart valve between the left
  chambers of the heart, and they may have loose
  joints

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Who is Likely to have this disease?

• Marfan Syndrome is an inherited disease and can
  affect men and woman of any race or origin
• There are some very serious cases but most are
  much more mild
• 1 in 10 affected cases are serious
• Our president Abe Lincoln was suspected of having
  this disease

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Frequency

• About 200,000 thousand people in the US have
  Marfan Syndrome
• Each child of a person who has Marfan syndrome
  has a 50 chance of inheriting the disease
• Two unaffected parents have only a 1 in 10,000
  chance of having a child with Marfan syndrome
• About 25 of all Marfan cases are due to a
  spontaneous mutation at the time of conception

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When is it detected?

• Marfan Syndrome can be detected during childhood
  but not though a simple blood test
• Mutliple doctors are needed to look for symptoms,
  at least three must be found in order for the
  person to be given treatment for Marfan Syndrome

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Prevention

• Prevention of Marfan Syndrome is not possible
  because it is an inherited genetic disorder that
  affects the connective tissue

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Treatment

• Beta blockers have now been used to control some
  of the heart symptoms of Marfan Syndrome
• Propranolol is also being used to help prevent
  aortic aneurysms
• Regular visits to the doctor are a must to make
  sure
• There is no cure for Marfan Syndrome but there
  are some treatments to help improve the quality
  of life

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Life Expectancy

• For woman, life expectancy has risen from 49 to
  74 years
• For men, life expectancy has risen from 41 to 70
  years in the last 32 years
• This life expectancy of Marfan patients is now
  about that of and average person, this has grown
  because there is currently better treatment for
  Marfan Syndrome

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Current Outlook

• People with Marfan Syndrome can now basically
  live a normal life because of early diagnosis and
  treatment
• Early identification of this disease allows
  doctors to prevent some problems, delay them, and
  treat them properly

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Bibliography

• http//www.ctds.info/fibrillin.htmlenvironmental2
  
• http//www.marchofdimes.com/professionals/681_1216
  .asp
• www.hughston.com/hha/a_12_2_4.htm
• http//www.umd.necker.fr/Site20Marfan/01AHOME20P
  AGE.html
• http//www.marfan.org/nmf/GetContentRequestHandler
  .do?menu_item_id4