Marfan Syndrome

Diagnosis

Marfan syndrome can be difficult to diagnose because many connective tissue disorders share similar signs and symptoms. Even within the same family, the features of Marfan syndrome can vary widely in both appearance and severity.

Doctors look for specific combinations of physical traits, medical findings and family history to confirm a diagnosis. In some cases, a person may show several features of Marfan syndrome but not enough to meet the full criteria for diagnosis.

Heart tests

If Marfan syndrome is suspected, one of the first tests usually recommended is an echocardiogram. This test uses sound waves to create real-time images of the heart in motion. It allows doctors to examine heart valves and measure the size of the aorta.

Other imaging tests, such as a CT scan or MRI, may also be used to closely evaluate the aorta and other blood vessels. Once Marfan syndrome is diagnosed, regular imaging tests are essential to monitor changes in the size and condition of the aorta over time.

Eye tests

Eye examinations play an important role in diagnosing and managing Marfan syndrome, as eye problems are common with this condition.

A slit-lamp exam is used to check for lens dislocation, cataracts and detached retinas. For this test, eye drops are used to fully dilate the eyes.

An eye pressure test may be done to screen for glaucoma. During this test, the eye doctor measures pressure inside the eye using a specialized instrument. Numbing eye drops are typically used to reduce discomfort.

Genetic testing

Genetic testing is often used to confirm the diagnosis of Marfan syndrome. A blood sample is analyzed to identify a specific genetic mutation linked to the condition.

If a Marfan-related mutation is found, close family members may choose to be tested to see if they are also affected. Genetic counseling can be helpful, especially for people planning to start a family, to understand the chances of passing Marfan syndrome to future children.

Treatment

There is no cure for Marfan syndrome. Treatment focuses on preventing complications and slowing the progression of the disease through regular monitoring and medical care.

With advances in diagnosis, ongoing follow-up and modern treatment approaches, many people with Marfan syndrome now live much longer and healthier lives than in the past.

Medications

Doctors commonly prescribe medications that lower blood pressure to reduce stress on the aorta. These medicines help slow the enlargement of the aorta and reduce the risk of serious complications, such as tearing or rupture.

Therapy

Vision problems caused by a displaced lens can often be managed with glasses or contact lenses. Regular eye care is important to monitor changes and adjust treatment as needed.

Surgical and other procedures

Some people with Marfan syndrome may need surgery or other interventions, depending on which parts of the body are affected and how severe the complications are.

Aortic repair may be recommended if the aorta reaches a certain size or enlarges quickly. In this procedure, a weakened section of the aorta is replaced with a synthetic tube to help prevent rupture. In some cases, the aortic valve may also need to be replaced.

Treatment for scoliosis may require evaluation by a spine specialist. Significant curvature of the spine may be managed with bracing or surgery.

Surgical options are available to correct a sunken or protruding breastbone. These procedures are sometimes considered cosmetic, and insurance coverage may vary.

Eye surgery may be needed if the retina becomes detached or torn. Surgical repair is often successful. Cataract surgery may also be performed to replace a clouded natural lens with an artificial one when needed.