Detailed Information on Marfan Syndrome

Marfan syndrome is an inherited disorder thatweakens is that an aneurysm may form. Marfan
affects connective tissue the fibers that providesyndrome can be mild to harsh, and the
the framework and support for your body.symptoms can vary. People with Marfan
Connective tissue is not a single entity, but asyndrome are frequently very tall, thin and loose
catch-all term for everything in your body thatjointed. Most people with Marfan syndrome have
keeps you from falling apart. The familiar tendonsheart and blood vessel problems, such as a
and ligaments keep bones and muscles together,weakness in the aorta or heart valves that leak.
but other connective tissue is more obscure, likeThey may also have problems with their bones,
the elastic fibers in the aorta that keep it soft andeyes, skin, nervous system and lungs. Different
rubbery. Marfan syndrome is caused by mutationspeople may need different types of treatment.
in the FBN1 gene on chromosome 15. People haveSome people may not require treatment, but
a pair of FBN1 genes. Because it is dominant,others may need drugs that lower heart rate,
people who have inherited one affected FBN1blood pressure or both.
gene from either parent will have Marfan's.If dural ectasia (swelling of the covering of the
Marfan syndrome affects all of these structures.spinal cord) develops, medication may help
It only happens to about 1 in every 5,000 people.minimize any associated pain. Anticoagulant
People with Marfan syndrome have loose tendonsmedications such as warfarin are needed after
and ligaments, less elasticity in the aorta, andartificial heart-valve placement. Genetic counseling
longer arms and legs. In the Marfan syndrome,and specialized clinics are available at many
the walls of the major arteries are weakened.academic medical centers for affected persons
The aorta, the main artery that leaves the heart,and family members. Annual evaluations are
often is affected. When this occurs, it gets bigger,important to detect any changes in the spine or
which can weaken the inner aortic wall. Understernum. This is particularly important in times of
strenuous exertion, the aorta wall can tear. Bloodrapid growth, such as adolescence. A serious
can leak through these tears into the aortic wall,deformity can not only be disfiguring but can also
separating its layers a process called aorticprevent the heart and lungs from functioning
dissection.properly.
Another problem that may occur if the aortic wall