Marfan

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Marfans Syndrome

• By Emily Espinosa

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History

• Bernard Marfan, a french pediatrician, described
  the disease that still bears his name at a
  meeting of the Medical Society of Paris in 1896.
  He presented the case of a 5-year-old girl named
  Gabrielle, who had disproportionately long limbs.
  
• In later studies, further conditions were
  documented, including arachnodactyly (long
  digits), cardiovascular abnormalities, and
  dislocation of the ocular lens.

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Background

• Marfans syndrome is a rare hereditary disorder
  that causes connective tissue to be weaker than
  normal. It is also known as arachnodactyly.
• Connective tissue supports and protects various
  other tissues, is a vital component of all organs
  in the body, and provides strength and elasticity
  to blood vessels.
• For people with Marfans syndrome, weak
  connective tissue causes problems of the skin,
  eyes, blood vessels, and bones.

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Causes

• Marfan syndrome is caused by a defect (mutation)
  in the FBN1 gene, on chromosome 15, that tells
  the body how to make fibrillin-1 -- a protein
  that is an important part of connective tissue. 
• It is a gene mutation.
• Some researchers believe that a small percentage
  of Marfan syndrome cases are caused by mutations
  in the TGFBR2 gene.
• Other researchers believe that TGFBR2 mutations
  cause a disorder that may have some Marfan-like
  features but is not Marfan syndrome.

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• People can inherit Marfan syndrome, meaning that
  they get the mutation from a parent who has the
  disorder. This is the case in about 3 out of 4
  people with Marfan syndrome. However, the defect
  is specific to each family, and not everyone
  experiences the same characteristics of Marfan
  syndrome. This is called variable expression.
• Other people have a spontaneous mutation, meaning
  that they are the first in their family to have
  Marfan syndrome.
• People with Marfan syndrome have a 50-50 chance
  of passing the mutation on each time they have a
  child.

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Phenotypic Effects

• People with the Marfan syndrome are often tall
  and thin. They also may have slender, tapering
  fingers, long arms and legs, curvature of the
  spine, flexible joints, and Chest may sink in
  (pectus excavatum) or stick out (pectus
  carinatum).

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Other 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)
• Eyes (Ocular system) 
• Severe nearsightedness  (myopia)
• Dislocated lens of the eye
• Detached retina
• Early glaucoma
• Early cataracts

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Diagnosis

• There is no specific laboratory test to diagnose
  Marfan syndrome. The doctor and/or geneticist
  relies on observation and a complete medical
  history, including
• information about any family members who may have
  the disorder or who had an early, unexplained
  heart-related death
• a thorough physical examination, including an
  evaluation of the skeletal frame for the ratio of
  arm/leg size to trunk size
• an eye examination
• heart tests such as an echocardiogram (a test
  that uses ultrasound waves to examine the heart
  and aorta).
• The doctor may diagnose Marfan syndrome if the
  patient has a family history of the disease and
  there are specific problems in at least two of
  the body systems known to be affected. For a
  patient with no family history of the disease, at
  least three body systems must be affected before
  a diagnosis is made.

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Treatment

• There is no cure for Marfan syndrome. However
  there are treatments available that depend on
  which systems are affected.
• Bones and Joints (Skeletal System)  Annual
  evaluations are important to detect any changes
  in the spine or breastbone (sternum). This is
  particularly important in times of rapid growth,
  such as adolescence.
• A serious deformity can not only be disfiguring
  but can also prevent the heart and lungs from
  functioning properly. In some cases, an
  orthopedic brace or surgery may be recommended.
• Eyes (Ocular) Early, regular eye examinations
  are key to catching and correcting any vision
  problems associated with Marfan syndrome.
• In most cases, eyeglasses or contact lenses can
  correct the problem, although surgery may be
  necessary in some cases.

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Treatment (continued)

• Heart and Blood Vessels (Cardiovascular
  System) Regular checkups and echocardiograms
  help the doctor evaluate the size of the aorta
  and the way the heart is working.
• Some heart valve problems can be managed with
  drugs such as beta-blockers, which help decrease
  stress on the aorta.
• In other cases, surgery to replace a valve or
  repair the aorta may be necessary. Surgery should
  be performed before the aorta reaches a size that
  puts it at high risk for tear or rupture.

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Bibliography

• http//www.marfan.org/marfan/
• http//www.americanheart.org/presenter.jhtml?ident
  ifier4672
• http//www.medicinenet.com/marfan_syndrome/article
  .htm
• http//journals.tubitak.gov.tr/medical/issues/sag-
  99-29-2/sag-29-2-24-98135.pdf
• http//genetics.emedtv.com/genetics-articles-a-to-
  z-page-2.html