How Is Marfan Syndrome Diagnosed?

Marfan syndrome is diagnosed based on three main factors:

• The presence of Marfan signs and symptoms
• A detailed family and medical history
• A complete physical exam and some tests

Diagnostic Criteria

The diagnosis of Marfan syndrome is based on a person’s family history and the presence of certain findings on physical exam. Lab and genetic tests can help, but by themselves are not enough to diagnose Marfan syndrome.

Doctors use a set of guidelines called the Ghent criteria to establish the diagnosis of Marfan syndrome. The Ghent criteria specify combinations of family history and physical findings that need to be present in order to diagnose Marfan syndrome. The criteria were updated in 1996 and named for the city in which the expert panel that decided the criteria met. The previous guidelines were called the Berlin criteria.

It is important to note that a person may have some of the features of Marfan syndrome, but not enough to actually be diagnosed with the disorder. In this situation, it is important for the person to be treated for the signs and symptoms he or she does have.

In some cases, Marfan syndrome may not be diagnosed until early adulthood, when the signs and symptoms become more obvious. Infants and children may be diagnosed if the signs and symptoms are obvious or if they are being treated for some other condition. Sometimes Marfan syndrome is identified in children or young adults after a family member has been diagnosed.

Specialists Involved

A family doctor or pediatrician may observe certain signs and symptoms that suggest Marfan syndrome and refer a person to a specialist for diagnosis. Because Marfan syndrome affects so many body systems, several specialists may be involved, including:

• Geneticist. This doctor specializes in genetic disorders. A geneticist will evaluate the person with Marfan syndrome and other family members. He or she will help coordinate visits with other specialists, collect the findings, and apply them to the diagnostic criteria. A geneticist can help answer questions about the cause of Marfan syndrome, whether other family members may have Marfan syndrome, and the chances of passing along the condition to an unborn child.
• Cardiologist. A cardiologist specializes in diagnosis and treatment of heart disease.
• Cardiothoracic surgeon. This type of doctor specializes in surgery of the heart and lungs.
• Orthopedist. An orthopedist specializes in diagnosis and treatment of deformities and injuries to bones.
• Ophthalmologist. An ophthalmologist specializes in disorders of the eyes.

Diagnostic Tests

Doctors may use a combination of tests to diagnose Marfan syndrome. In addition, some tests also may be used for monitoring patients and detecting complications. Tests may include:

• Echocardiogram. This test uses sound waves to create a moving picture of your heart. Echocardiogram provides information about the size and shape of your heart and how well your heart chambers and valves are functioning. The test also can identify areas of poor blood flow to the heart, areas of heart muscle that are not contracting normally, and previous injury to the heart muscle caused by poor blood flow.
• There are several different types of echocardiograms, including a stress echocardiogram. During this test, an echocardiogram is done both before and after your heart is stressed either by having you exercise or by injecting a medicine into your bloodstream that makes your heart beat faster and work harder. A stress echocardiogram is usually done to find out if you have decreased blood flow to your heart (coronary artery disease).
  • Transesophageal (tranz-ih-sof-uh-JEE-ul) echocardiography (TEE). TEE is used to look for aortic dissection and aortic aneurysm. Like echocardiogram, this test uses sound waves, but it shows a detailed view from inside the body using a small flexible tube placed in the esophagus, which is behind the heart.
• Computed tomography (CT) scan. This test uses dye that can be seen on x ray. It produces computer-generated images that can show aortic dissection and aneurysm.
• EKG (electrocardiogram). An EKG measures the rate and regularity of the heartbeat. It can help find heart rhythm problems.
• Magnetic resonance imaging (MRI). This test uses magnets and radio waves to create images of the inside of the body. MRI can show aortic dissection and aneurysm, and it can be used on the lower back to detect dural ectasia.
• Slit-lamp exam. This is an eye test. The doctor uses a microscope with an adjustable light source to check the eyes for lens dislocation, nearsightedness, cataracts, or a detached retina. In Marfan syndrome, it is important for the eye doctor to completely dilate the eye before conducting the test in order to get the most accurate results.
• Genetic testing. Although the genetic defect that causes Marfan syndrome is known, there is no genetic test that can always diagnose the disorder without a person also meeting the diagnostic criteria. Because there are times when genetic testing may be helpful, testing should be discussed with a doctor who is familiar with Marfan syndrome.