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Key Points
- Marfan syndrome is a connective tissue disorder.
Connective tissue is the strong, elastic tissue that holds the parts of the
body together and supports body structures.
- In Marfan syndrome, the connective tissue is
weakened due to a defect in an important protein called fibrillin 1. The
defective fibrillin 1 also affects the growth and development of many of the
organs of the body.
- Marfan syndrome is usually inherited (passed from
parent to child). It takes only one copy of the gene that causes Marfan
syndrome to be born with the condition. Sometimes a chance gene mutation occurs
that causes Marfan syndrome.
- People who have Marfan syndrome are usually tall
with a slender, loose-jointed body. However, it should be noted that short,
heavy people also can have Marfan syndrome.
- The signs and symptoms of Marfan syndrome vary.
Some people have only mild signs and symptoms. Others have severe signs and
symptoms with serious complications.
- Doctors diagnose Marfan syndrome according to
guidelines called the Ghent criteria, which are based on signs and symptoms
that are common in people with this disorder. The Ghent criteria are based on a
detailed personal and family medical history, physical exam, and results of
tests of the heart and eyes.
- Complications from Marfan syndrome can include
problems with the heart and blood vessels, including leaky valves and an
enlarged aorta. Chest wall deformities and a curved spine can occur. The eyes,
lungs, and skin also can be affected.
- A serious complication of Marfan syndrome is
aortic dissection. In aortic dissection, a tear occurs in the wall of the
aorta, and the layers of the wall separate as blood leaks into the wall of the
aorta. This can lead to blockage of blood flow through the aorta. Aortic
dissection is a life-threatening medical emergency, but it can be treated if
caught early.
- Treatment for people with Marfan syndrome may
include medicines; surgery; lifestyle changes related to physical activity;
regular checkups of the heart, eyes, and skeleton; and/or the use of back
braces or other prosthetic devices.
- Marfan syndrome is a lifelong condition that
cannot be cured. However, early diagnosis and treatment, combined with
lifestyle changes, can limit and prevent complications, lengthen life, and
improve the quality of life.
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Living With Links
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