Aorta disease and Marfan syndrome

Because Marfan syndrome can affect tissue all over your body, a team of healthcare providers may be involved in confirming the diagnosis and developing a treatment plan.

First, they’ll take your medical history, conduct a physical exam to look for typical signs or findings associated with Marfan, ask questions about the symptoms you’re experiencing, and gather information about family members who may have had health problems related to Marfan syndrome.

Tests to evaluate changes in the heart, blood vessels and heart rhythm problems may include:

Chest X-ray to look at your heart’s border.

Electrocardiogram (ECG) to check heart rate and rhythm.

Echocardiogram to check for heart valve problems, examine your heart for ventricular dilation or thickening, and examine your aorta for enlargement, dissections (tears) or aneurysms.

If your healthcare provider can’t see sections of the aorta through an echocardiogram, or they think a dissection may have already happened, you may need more testing.

These include:

Transesophageal echo (TEE).

Magnetic resonance imaging (MRI).

Computed tomography (CT) scan.

Often a CT or MRI is also needed to check for dural ectasia. Dural ectasia is a bulging of the lining of the spinal column. It often does not cause any symptoms, but it can be associated with back pain in some people. Dural ectasia helps support the diagnosis of Marfan syndrome, but it can also occur with other connective tissue disorders.

A blood test can help diagnose Marfan syndrome. This genetic test looks for changes in FBN1, the gene that is responsible for most cases of Marfan syndrome.

A genetic counselor should review your genetic testing because FBN1 test results are not always obvious. Blood tests also can be used to help diagnose other genetic mutations, such as Loeys-Dietz syndrome, that cause physical findings similar to Marfan syndrome.

While there is no cure for Marfan syndrome, treatment focuses on preventing the various complications of the disease. To accomplish this, you'll need to be checked regularly for signs that the damage caused by the disease is progressing.

In the past, people who had Marfan syndrome often died young. With regular monitoring and modern treatment, most people with Marfan syndrome can now expect to live a more normal life span.

Medications

Doctors often prescribe blood pressure lowering drugs to help prevent the aorta from enlarging and to reduce the risk of dissection and rupture.

Therapy

The vision problems associated with a dislocated lens in your eye often can be corrected with glasses or contact lenses.

Surgical and other procedures

Illustration showing an ascending aortic root aneurysm repair and replacement

Ascending aortic root aneurysm repair and replacementOpen pop-up dialog box

Depending on your signs and symptoms, procedures might include:

Aortic repair. If your aorta's diameter reaches about 2 inches (50 millimeters) or if it enlarges rapidly, your doctor may recommend an operation to replace a portion of your aorta with a tube made of synthetic material. This can help prevent a life-threatening rupture. Your aortic valve may need to be replaced as well.

Scoliosis treatment. When there is significant scoliosis, a consultation with a spine expert is necessary. Bracing and surgery are needed in some cases.

Breastbone corrections. Surgical options are available to correct the appearance of a sunken or protruding breastbone. Because these operations are often considered to be for cosmetic purposes, your insurance might not cover the costs.

Eye surgeries. If parts of your retina have torn or come loose from the back of your eye, surgical repair is usually successful. If you have cataracts, your clouded lens can be replaced with an artificial lens.