Marfan Syndrome

Signs and Symptoms

The most common and serious feature of Marfan syndrome is dilation or widening of the aorta, which is the main blood vessel that carries blood out of the heart to the rest of the body. The dilation can progress until the wall of the aorta tears, a condition called aortic dissection. This is the most serious or life-threatening feature of Marfan syndrome. However, aortic dissection can be avoided by taking appropriate medicine and with preventive surgery to replace a dilated aorta, before it tears.

Since Marfan syndrome is partly caused by changes in growth regulation, people with the disorder can often have some of the following traits:

• They are taller than people in their family who do not have Marfan syndrome
• They may have long, thin fingers and long arms and legs
• They may have a dislocation of the lens in the eye that also causes nearsightedness or myopia that can progress quickly
• They may have a detached retina, early glaucoma or early cataracts

Diagnosis

There is not one simple test to make a diagnosis for Marfan syndrome. To find out if someone has Marfan syndrome, the patient needs to be checked for features of the condition. This may mean seeing a number of doctors and undergoing various special tests. A visit to the Marfan Clinic includes all these evaluations, including a genetics evaluation that brings together the information from all these different doctors and tests to determine if the person has Marfan syndrome.

To be diagnosed with Marfan syndrome a person must either have several of the features or have just a few of the features but also have a family member with documented Marfan syndrome. Genetic testing can also help with the diagnosis. This is a blood test that looks for a mutation in the FBN1 gene, which is the cause of Marfan syndrome.

If the FBN1 mutation causing Marfan syndrome in a family is known, then other members of the family can be tested for that mutation. This will determine if they have inherited Marfan syndrome.

Treatment

Care of people with Marfan syndrome has significantly improved over the years. Most people will live a normal life span and have a good quality of life, though they will need more medical attention and treatment than the average person. Because Marfan syndrome affects several different parts of the body, people with Marfan syndrome need to see doctors who specialize in genetics, cardiology, orthopedics, ophthalmology and other specialties as needed.

Most of the features of Marfan syndrome can be treated. As mentioned above, aortic dilation can be managed with medications, regular screening of the aorta by echocardiogram, and surgery to prevent aortic dissection. The eye features can be treated with glasses or, if needed, with surgery.