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Tests and diagnosis
By Mayo Clinic staffMarfan syndrome can be challenging for doctors to diagnose because many connective tissue disorders have similar signs and symptoms. And even among members of the same family, the signs and symptoms of Marfan syndrome vary widely — both in their features and in their severity.
Certain combinations of symptoms and family history must be present to confirm a diagnosis of Marfan syndrome. In some cases, a person may have some features of Marfan syndrome, but not enough of them to be diagnosed with the disorder.
Diagnostic tests may include:
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Echocardiogram. This test is an ultrasound of your heart. It uses sound waves to capture real time images of your heart in motion. Echocardiograms show how well your heart chambers and valves are working. In addition, the ascending aorta, aortic arch, and upper descending aorta can usually be seen and measured with an echocardiogram. Occasionally, to better see your aorta, your doctor may recommend a transesophageal echocardiogram — in which the sound waves are generated from within your body by a device threaded down your esophagus.
You'll likely have an echocardiogram as the first test to check for Marfan syndrome. If your doctor thinks you have Marfan syndrome, the size of your aorta will be recorded, and your doctor will likely order another echocardiogram within six to 12 months to make sure your aorta hasn't grown larger.
In addition, if you're diagnosed with Marfan syndrome, your doctor will recommend that images be taken of your entire aorta. This is usually done with magnetic resonance angiography (MRA) or computerized tomography (CT) scans.
- Magnetic resonance angiography (MRA) or computerized tomography (CT) scans. These tests both use a special dye — called a contrast medium — to highlight structures in your aorta. In MRA, radio waves in a strong magnetic field produce data that can be computer-translated into detailed images of your blood vessels. A CT scan combines a series of X-ray views taken from many different angles to produce cross-sectional images of the aorta.
- Slit-lamp exam. This eye test checks for lens dislocation, cataracts or a detached retina. Your eyes will need to be completely dilated with drops for this exam.
- Eye pressure test. To check for glaucoma, your eye doctor may measure the pressure inside your eyeball by touching it with a special tool. Numbing eyedrops are usually used before this test.
Tests for blood relatives
Marfan syndrome and other conditions that affect the upper part of your aorta (thoracic aorta) tend to run in families. Because of this, your doctor may recommend that your first-degree blood relatives, such as your siblings or children, have tests to check for Marfan syndrome or other conditions. These tests include:
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Genetic testing. If findings from standard exams for Marfan syndrome are not clear cut, genetic testing can be helpful. Genetic testing can also be used to test symptom-free relatives in families where a genetic mutation has been identified.
You may also want to consider genetic testing and genetic counseling before starting a family, to see what your chances are of passing on Marfan syndrome to your future children.
- Imaging tests. Your doctor may recommend that your first-degree relatives have an echocardiogram or another type of imaging test to check for Marfan syndrome or another thoracic aortic condition.
- Questions and Answers about Marfan Syndrome. National Institute of Arthritis and Musculoskeletal and Skin Diseases. http://www.niams.nih.gov/health_info/marfan_syndrome/default.asp. Accessed June 1, 2010.
- Wright MJ. The Marfan syndrome. http://www.uptodate.com/home/index.html. Accessed June 1, 2010.
- Hiratzka LF, et al. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with thoracic aortic disease: Executive summary. Journal of the American College of Cardiology. 2010;55:e27. Accessed June 1, 2010.
- Keane MG, et al. Medical Management of Marfan Syndrome. Circulation. 2008;117:2802.
- Pyeritz RE. Marfan syndrome: 30 years of research equals 30 years of additional life expectancy. Heart. 2009;95:173.
- Children and teens. National Marfan Foundation. http://www.marfan.org/marfan/2493/Children-and-Teens. Accessed June 1, 2010.
- Glaucoma: What you should know. National Eye Institute. http://www.nei.nih.gov/health/glaucoma/glaucoma_facts.asp. Accessed June 1, 2010.
- Facts about retinal detachment. National Eye Institute. http://www.nei.nih.gov/health/retinaldetach/retinaldetach.asp. Accessed June 1, 2010.
- Grogan M (expert opinion). Mayo Clinic, Rochester, Minn. June 4, 2010.
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