Marfan syndrome (or Marfan's syndrome) is an inherited disease, caused by an abnormal gene on chromosome 15, that affects the connective tissue within the body. The primary purpose of connective tissue is to hold the body together and provide a framework for growth and development. In Marfan syndrome, the connective tissue is defective and does not act as it should. Because connective tissue is found throughout the body, Marfan syndrome can affect many body systems, including the skeleton, eyes, nervous system, skin, lungs, and the heart and blood vessels (the cardiovascular system). The most serious problems associated with the Marfan syndrome involve the cardiovascular system. The two leaflets of the mitral valve may billow backwards when the heart contracts (mitral valve prolapse). This can lead to leakage of the mitral valve or irregular heart rhythm. In addition, the aorta, the main artery carrying blood away from the heart, is generally wider and more fragile in patients with the Marfan syndrome. This widening is progressive and can cause leakage of the aortic valve or tears (dissection) in the aorta wall - causing serious heart problems and sometimes sudden death. When the aorta becomes greatly widened, or tears, surgical repair is necessary.

Marfan syndrome affects men, women, and children, and has been found among people of all races and ethnic backgrounds. It is caused by a defective gene that controls the formation of the protein fibrillin in the connective tissue. This an autosomal dominant defect, which means that only one parent must have the abnormal gene in order for a child to inherit the disease. But in some cases, the gene defect is a spontaneous mutation that occurs with no family history of the disease. Marfan syndrome affects about 1 in 5,000 Americans. It is estimated that at least 200,000 people in the United States have the Marfan syndrome or a related connective tissue disorder.

Signs and symptoms of Marfan syndrome:

There are various signs and symptoms that may indicate a patient has Marfan syndome. These signs and symptoms include:

• Unusual tallness
• An arm span that exceeds body height
• Unusually long fingers and toes (arachnodactyly)
• Deformity of the breastbone (sternum) and spine
• Excessively flexible joints
• Stretch marks on the skin without any weight change
• Dislocation of the eye lens
• Enlargement of the aorta near the heart (aortic aneurysm)
• Leakage of the aortic valve of the heart

Diagnosing Marfan Syndrome

When several of the signs and symptoms described above are present, or there is a family history of Marfan syndrome, a complete physical examination that focuses on the systems affected by the disorder may be warranted. These include:

• Echocardiogram (a test that uses ultrasound waves to examine the heart and aorta).
• Slit-lamp eye examination.
• Skeletal examination, including an evaluation of the skeletal frame for the ration of arm/leg size to trunk size.
• Complete family history, including information about any family members who may have the disorder or who had an early, unexplained heart-related death.

Treating Marfan Syndrome

People affected by the Marfan syndrome should be treated by a physician familiar with the condition and how it affects all body systems. Careful medical management can greatly improve the prognosis and lengthen the life span. In general, treatment may include the following:

• Regular echocardiogram (and with some individuals CAT Scans and MRIs) to monitor the size and function of the heart and aorta. Certain changes may require medication (such as beta-blockers, which may help decrease stress on the aorta) or surgical intervention to replace a valve or repair the aorta. Surgery should be performed before the aorta reaches a size that puts it at high risk for tear or rupture. Following heart surgery, extreme care must be followed to prevent endocarditis (inflammation of the lining of the heart cavity and valves). Dentists should be alerted to this risk; they are likely to recommend that the patient be prescribed protective medicines before they perform dental work.
• Regular skeletal evaluations to detect any changes in the spine or sternum that not only be disfiguring but can also prevent the heart and lungs from functioning properly. In some cases, an orthopedic brace or surgery may be recommended to limit damage and disfigurement
• Periodic follow-up with an ophthalmologist following an initial eye examination with a slit-lamp to detect lens dislocation.
• Careful monitoring of the skeletal system, especially during childhood and adolescence.
• Beta-blocker medications may be prescribed to lower blood pressure and, consequently, reduce stress on the aorta.
• Antibiotics may be prescribed prior to dental or genito-urinary procedures to reduce the risk of infection in people who experience mitral valve prolapse or who have artificial heart valves. People who have had aortic surgery must take blood thinning medication. They also may need to take antibiotics by injection before dental work, and in other situations in which bacteria could enter the blood stream.
• Women who have Marfan syndrome and become pregnant are at high risk, whether or not they have symptoms of an enlarged aorta. They face an increased possibility of aortic splitting during pregnancy.

Legal Options

If someone you love has died because a doctor or other health care professional failed to diagnose Marfan syndrome and failed to provide appropriate treatment, you should immediately contact a competent attorney. The attorney will work with you to determine whteher there may a medical malpractice claim resulting from the failure to diagnose Marfan syndrome or provide appropriate treatment.