Transcript Marfan Syndrome Hannah Larks

Marfan Syndrome
Hannah Larks
Information
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Type: Heritable condition that effects connective tissue
Some symptoms are.. Tall, slender and loose jointed.
Scoliosis meaning curvature of the spine. Some may
develop glaucoma and cataracts which can lead to
blindness. Can create heart murmur. Some may
develop stretch marks and can also have sleep apnea.
You can diagnose it from Medical history
Prognosis: It is a life long disorder.
Depending on what symptoms you have that will
determine what treatment you get. Some can be an
echocardiogram or eye tests, and a physical
examination
Research
• Scientists are currently trying to find certain medications
and some reliable surgeries dealing with Marfan
Syndrome.
• A related disease has been found in mice and they are
trying to further understand Marfan syndrome in humans
Chromosome Graphic
Genetic Counseling
• FBN1 is a large gene and mutations can be found within
it, over 500 mutations identified in FBN1.
• Genetic counseling should be done before pregnancy
since Marfan syndrome is inherited.
• Pregnant women have higher risks, and if the aorta (part
of the arterial system, conveying blood from the left
ventricle of the heart to all of the body except the lungs)
is normal size then the risk decreases but doesn’t
disappear.
Story
• A girl was diagnosed with Marfan Syndrome when she was 13,
although she had been having problems since she was born. She
wasn’t able to nurse until the age of 20 months so she had lost
some weight. When she started walking she walked on her ankles
and not her feet so the parents new something was wrong. She had
to get surgery to straighten her spine and het screws and a pole to
help her body hold itself. She is still alive but has to go regularly for
check ups. Her name was not mentioned. Though she may seem
disabled she has a great talent and love for drawing.
Credits
• http://www.americanheart.org/presenter.jhtml?identifier=
4672
• http://www.wrongdiagnosis.com/m/marfan_syndrome/intr
o.htm
• http://my.clevelandclinic.org/heart/disorders/aorta_marfa
n/marfan.aspx
• http://www.squidoo.com/marfans-syndrome
• http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_
list.php?cat3=188