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.