Marfan Syndrome
Michele Scott
Period 3
Cause
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Caused by defect in a gene called Fibrillin-1
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Fibrillin-1 play important role in the building of elastic
tissue
Usually syndrome is inherited
30% of cases have no family history
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Called sporadic cases
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Result of new gene defect
Symptoms
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Effects mainly the lung tissue, aorta, eyes, and skin
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Along with many symptoms
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Many symptoms including the following:
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A chest that sinks in or sticks out
Flat feet
Scoliosis
Hyptonia
Etc.
Approximately 0.02% of population have syndrome
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Equally in all ethnicities and sexes
Treatment
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With proper diagnoses and treatment life expectancy
is in the early to mid 70’s
Without proper care its in the 40’s
– These treatments include:
 Medication
 Regular echocardiograms of entire aorta
 Surgery
– Unfortunately there is no cure for this syndrome
Affects on Family
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Parents and siblings may feel angry, sad, and guilt
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Even though they did not cause the Finrillin-1, for it is a gene
defect
Families will also have to take more care of their family member
with the syndrome
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Lots of medical attention
Lots of medical bills/money
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By learning about the Marfan Syndrome and other syndromes
and diseases, I have learned that I am lucky, to be healthy,
safe, and to have food and snacks…and to see people with this
diseases and syndromes who can’t go through life with the
same advantages as me makes me upset, almost angry. So
when you have the chance to do something amazing like travel,
or go bungee jumping…yea cool things. Or normal like going to
the movies or playing outside, just take advantage of your
advantages.
References
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http://www.niams.nih.gov/Health_Info/Marfan_Syndrome/
http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001455/