Diagnosing Marfan Syndrome

Marfan syndrome is a genetic condition that causes problems with connective tissue, the fibers that support and connect the body’s cells, organs, and tissues. 

Because connective tissue is found throughout the body, this condition can cause a variety of health issues in the bones and joints, blood vessels, eyes, heart, lungs, and nervous system. These can include glaucoma, or damage to the optic nerve in the eyes; scoliosis, or a curvature in the spine; and an enlargement of the heart. 

Although people are born with Marfan syndrome, symptoms may not appear until adolescence or early adulthood. Sometimes, symptoms are noticeable at birth and in early childhood. 

Marfan syndrome is caused by a mutation in a gene called FBN1, which produces fibrillin-1, a protein that helps form connective tissue. The condition, which is chronic, affects about 1 in 5,000 Americans. A person with the syndrome has a 50 percent chance of passing it on to his or her child.


Symptoms can range from mild to severe. People with Marfan syndrome tend to be tall and have crowded teeth, long fingers, flat feet, loose joints, and sometimes scoliosis, an unusual curvature of the spine. Their chests tend to stick out or appear sunken, and they may have stretch marks on the skin, particularly on the hips, lower back, and shoulders.

Problems with the heart can include an aortic dissection, a tear in the aorta, which carries blood from the heart; aortic aneurysm, a bulging of the aorta, which can rupture; and aortic valve disease and mitral valve disease, in which heart valves controlling blood flow don’t close properly. 

In the nervous system, Marfan syndrome often causes dural ectasia, a sometimes painful swelling of the membrane that surrounds the spinal cord. It may also lead to vision problems, such as cataracts or a detached retina. Occasionally, the lenses of the eyes are dislocated, a condition called ectopia lentis. 

Lung problems may involve sudden lung collapse, which can cause pain and shortness of breath. A person may also experience restrictive lung disease, which makes it difficult for the chest to expand enough to allow full breaths.

Because Marfan syndrome can lead to life-threatening conditions that affect the heart, your NYU Langone cardiologist and cardiovascular surgeon work together to diagnose the condition and determine the best treatments for you. They often bring in other specialists, such as ophthalmologists, to address other symptoms.

Diagnostic Tests

Your NYU Langone doctor performs a physical exam and orders a variety of tests. A doctor decides which tests to order based on your symptoms, whether you have a family history of Marfan syndrome, and findings from the physical exam. The results of these tests are compared to a set of diagnostic criteria for the aorta and the eyes, plus genetic test results.

Genetic Testing

A doctor draws blood and sends it to a laboratory to check for Marfan syndrome–related gene mutations—changes in genes responsible for certain body functions. This includes testing for a mutation in the FBN1 gene, which is often responsible for Marfan syndrome.

CT Scans

Your doctor may order a CT scan to check for tears or bulging in the aorta or problems in the heart valves that may point to Marfan syndrome. In a chest CT scan, X-rays create cross-sectional images of your heart. You may be required to drink a contrast agent, which highlights organs during the test. You lie on a narrow bed that moves in and out of the tunnel-shaped CT machine, which can be enclosed or open. 


An echocardiogram is a test that bounces high-frequency sound waves off the heart to produce images of the aorta and the valves. During the test, a specialist affixes small metal electrodes to your chest and legs to record your heart rate, rubs a gel on your chest, then presses a handheld device called a transducer against your chest to obtain the images. 

Transesophageal Echocardiography

Your doctor may use transesophageal echocardiography, an ultrasound examination of the aorta through the esophagus. Since the probe can be placed closer to the heart than in a regular echocardiogram, it provides clearer images of the aorta. 

Prior to the test, your doctor gives you a sedative to make you comfortable. Then he or she inserts a thin probe into your mouth and esophagus to transmit images of the aorta to a monitor.

Magnetic Resonance Angiogram

A magnetic resonance angiogram is a type of MRI scan that uses a magnetic field and radio waves to provide computerized, three-dimensional images of the aorta. Specialists give a contrast agent through a vein with intravenous (IV) infusion, which helps the radiologist see the aorta clearly. 

Eye Exam

Your doctor may refer you to an ophthalmologist for an eye examination. He or she checks for differences in the shape of the eyes; displaced eye lenses, which is called ectopia lentis; and a detached retina; or nearsightedness. These all can be complications of Marfan syndrome.

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