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Marfan Syndrome - CISAT Sharepoint

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Marfan Syndrome
An Autosomal
Dominant
Disorder of the
Connective
Tissues.
Modes of Inheritance:
About 30% of cases occur when the
abnormal gene arises in an egg or a
sperm of an unaffected parent. Each
child of a Marfan sufferer has a 50-50
chance of inheriting the syndrome
п‚­ Most cases occur as a result of
inheriting the gene from an affected
parent.
п‚­
Pedrigree of Marfan
Syndrome
1.1
1.2
I
II
2.1
2.2
2.3
2.4
2.5
2.6
III
3.1
IV
3.2
3.3
3.4
RED = affected
4.1
GREEN = unaffected
Symptoms:
Irregular heart rhythms
п‚­ Leakage of the mitral valve
п‚­ Curvature of the spine (scoliosis)
п‚­ Pectus deformity
п‚­ Disproportionate growth (usually tall)
п‚­ Myopic (near-sighted)
п‚­ Dislocation of ocular lens
п‚­
Chromosomal
Location:
п‚­
A single abnormal
gene located on
chromosome 15
and containing
the coding for
fibrilin, a
connective tissue
protein, is
responsible for
the syndrome.
Frequency of
Occurrence:
This condition affects both men and
women of any race or ethnic group.
п‚­ At least 200,000 individuals in the
United States suffer from Marfan
Syndrome.
п‚­
Biochemistry of
Marfan:
http://www.ncbi.nlm.nih.gov/disease/marfan
Diagnosing Marfan:
п‚­
Marfan is difficult to diagnose because there
is not a specific test for the disorder.
However, certain tests are useful in
diagnosing the ailment:
– Echocardiogram (sound wave picture of the
heart)
– X-rays
– Slit-lamp eye examination
– Skeletal examination
– Complete family history
Treating Marfan:
п‚­
п‚­
п‚­
п‚­
п‚­
п‚­
п‚­
Every person with Marfan Syndrome should have regular
echocardiograms to check the size and function of the heart and
aorta.
A careful eye examination using a slit lamp to detect lens dislocation
is recommended.
Glasses may be prescribed to correct visual defects.
Careful monitoring of the skeleton, particularly during childhood and
adolescence, is necessary.
Beta blocker medications may be prescribed to lower blood pressure,
to reduce stress to the aorta.
Antibiotics may be prescribed prior to dental procedures to reduce
the risk of infection in people with mitral valve prolapse.
Adapted lifestyles, such as avoiding contact sports or strenuous
exercise, to reduce the risk of injury to the aorta.
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