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Marfan Syndrome is a genetic disorder,
which may affect; the heart and blood vessels (Cardiovascular
System), Spine, Chest, and joints (Skeletal System)
and the Eyes and their supporting tissue (Ocular System). |
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The heart abnormalities associated
with this condition are however the most life-threatening and
the most important to detect. The major heart abnormality is
weakening of the root of the aorta which leads to dilation of
that root and, at extremes, aneurysm formation and rupture. |
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Normal Body |
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Marfan Syndrome |
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Cardiovascular Abnormalities: (heart and blood vessels) |
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- Mitral Valve Prolapse
- Mitral regurgitation
- Dilation of the aortic root
- Aortic Valve Regurgitation
A murmur of aortic regurgitation, a diastolic murmur indicating
a leaking aortic valve
- Aneurysm of the aorta and Aortic
dissection
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Aortic Valve Regurgitation |
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How do doctors diagnose Marfan Syndrome? |
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- Detailed medical and family
history.
- A complete physical examination,
including a careful musculo-skeletal and skin examination.
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- Echocardiogram, looking for
involvement of the cardiovascular system that is often not evident
from the physical examination.
- Eye slit lamp examination by
an ophthalmologist, to determine if there is any lens dislocation.
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