Diagnosing Marfan Syndrome

Marfan syndrome is a genetic condition caused by a mutation of the FBN-1 gene. This mutation limits the body’s ability to make a protein that helps build connective tissues, which are the fibers that support and hold together blood vessels and organs. Marfan syndrome is a chronic condition that affects about 1 in 5,000 Americans.

Because connective tissue is found throughout the body, this condition can cause a variety of health issues. Marfan syndrome most commonly affects the aorta, which is the major blood vessel that provides blood to the body. The condition can also impact other blood vessels as well as bones, joints, the eyes, heart, lungs, and nervous system. Although people are born with Marfan syndrome, signs or symptoms may not appear until adolescence or early adulthood.

Symptoms of Marfan Syndrome

The physical symptoms of Marfan syndrome range from mild to severe. People with this syndrome tend to be tall and have crowded teeth, long fingers, flat feet, and loose joints. 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.

Marfan syndrome increases the risk of the following conditions that affect the heart:

• aneurysm of the aortic root, which is a bulge in the section of the aorta nearest to the heart and is the most common cardiac condition affecting people with Marfan syndrome
• aortic dissection, a tear that occurs in the wall of the aorta and that may occur suddenly once the aortic root aneurysm reaches a certain diameter or size
• aortic valve regurgitation, a leak that can occur when the bulging aortic root distorts the aortic valve
• mitral valve prolapse, where the mitral valve doesn’t close properly

In addition, people with Marfan syndrome often experience vision-related conditions. The most common one is ectopia lentis, where the lens in one or both eyes is not positioned correctly, causing severe nearsightedness. There is also an increased risk for developing detached retina and for early cataracts.

Lung complications may involve sudden lung collapse, known as pneumothorax, which can cause pain and shortness of breath. Some people also experience scoliosis, which is a curvature in the spine.

Diagnostic Tests for Marfan Syndrome

Because Marfan syndrome can lead to life-threatening aortic dissection or rupture, your cardiologist works with cardiac and vascular surgeons to diagnose the condition early and determine the best treatments for you.

Your NYU Langone doctor starts with a physical exam. The likelihood of Marfan syndrome can be determined by the number of physical characteristics present. If the condition is suspected, genetic testing and imaging tests are often requested.

Genetic Testing

If your doctor strongly suspects Marfan syndrome, a 29-gene genetic test is performed to look for mutations associated with Marfan syndrome and other genetic conditions that affect the body in a similar way. Genetic testing is done with an at-home saliva test kit or an in-office blood test.

CT Scans

Your doctor may order a CT scan or CT angiogram of the chest to check for an aneurysm or dilation (bulging) in the aortic root or in other parts of the aorta. In a chest CT scan, X-rays create cross-sectional images of your aorta and other major blood vessels.

Echocardiogram

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 places small metal electrodes to your chest and legs to record your heart rate, rubs a gel on your chest, and 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.

Before the test, your doctor gives you a sedative to make you comfortable. Then they insert 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 you a contrast agent through a vein via an 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. They check for differences in the shape of the eyes, ectopia lentis, a detached retina, and nearsightedness. These all can be complications of Marfan syndrome.