Marfan Syndrome

Characteristics of Marfan Syndrome:

Over 60% of people with Marfan Syndrome have problems with their vision including nearsightedness, lens subluxation, and/or having a difference in the shape of the eye. They are also prone to retinal detachment, glaucoma and cataracts. Lens dislocations is often the first sign of Marfan syndrome.

Organ Systems affected by Marfan Syndrome:

Majority of people with Marfan Syndrome develop changes in their heart and blood vessels. The walls of the blood vessels can become weak and stretch or dilate, mostly affecting the aorta. When this happens there is an increased risk of an aortic aneurysm, aortic dissection or rupture, which can result in sudden death or serious heart problems.

Mitral Valve Prolapse is also common in people with Marfan Syndrome. This is where the mitral valve becomes floppy and does not close tightly, allowing blood to flow backward across the valve. As the degree of the backflow worsens the workload demand on the heart increases, which can cause shortness of breath, fatigue and palpitations.

The nervous system might also be affected. Dura mater, which is made of connective tissue, surrounds the brain and spinal cord. As people with Marfan Syndrome age, the dura mater may become weak and dilate. This condition may produce mild discomfort, leg numbness or weakness and/ or back pain.

The pulmonary system can also be affected. People with Marfan Syndrome have an increased risk of developing asthma, emphysema, pneumonia, bronchitis, or sudden collapse of a lung. Smoking is to be avoided.

How is Marfan Syndrome Diagnosed?:

Multiple organ systems must be assessed when diagnosing Marfan syndrome. A thorough history of symptoms and family history are necessary. Cardiac testing included an ECG and an echocardiogram. These are done to evaluate changes in the heart and blood vessels and to detect any heart rhythm abnormalities. If the aorta can not be visualized by an echocardiogram then a transesophageal echo, MRI or CT scan may be needed.

Treatment:

Treatment plans are individualized, the approach depends on the structures affected and the severity of the condition. Routine follow up appointments including cardiovascular, eye and skeletal exams are absolutely necessary. Frequency of the follow up will be decided by the physician. Medications and surgical procedures can be discussed with the health care team.

In some special cases; a blood test can be done that is highly specialized and looks for changes in FBN1, the gene that is responsible for most cases of Marfan Syndrome

Exercise:

Activity levels will be dependent on the extent of the disease and symptoms. The majority of people with Marfan syndrome can participate in some type of recreational activities. However, those with a dilated aorta should avoid high-intesnity and contact sports. The extent of exercise must be discuseed with the cardiologist.

Pregnancy:

Marfan Syndrome is an inherited condition, so women with this disorder may want to consider genetic counseling prior to becoming pregnant. Pregnant women with Marfan Syndrome are considered high risk cases and must have close follow-up with their obstetrician.

Work cited:

http://my.clevelandclinic.org/heart/disorders/aorta_marfan/marfan.aspx www.americanheart.orgwww.niams.migh.govwww.niams.migh.govwww.marfan.org

Habel, Maureen. "Inherited disorder has far-reaching effects. Marfan Syndrome." Nursing Spectrum, September 22, 2008: 20-24.

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