Marfan syndrome is diagnosed through imaging tests such as echocardiograms and MRIs, as well as genetic testing to check for changes in the FBN1 gene. Other tests include eye and bone structure exams. Symptoms can be subtle, and multiple tests may be needed for diagnosis.
A Marfan syndrome test is used to diagnose whether a person has this condition. Imaging tests such as an echocardiogram or magnetic resonance imaging (MRI) may be done to examine the aorta. Genetic testing will determine if there are changes on the FBN1 gene usually associated with Marfan syndrome. There are a few other types of Marfan syndrome tests done in conjunction with imaging, such as eye and bone structure tests.
Marfan syndrome affects the connective tissue of the body. The condition affects many areas of the body, including the heart, eyes and bones. Usually, the condition is hereditary and occurs due to a malformation of the FBN1 gene, which is responsible for the body’s connective tissue. Signs and symptoms of the condition can be so subtle as to be barely noticeable.
Typically, more than one Marfan syndrome test needs to be done on a patient to make a diagnosis. An echocardiogram is usually the first test of Marfan syndrome. The test is an ultrasound of the heart and aorta. During the test, the size of the aorta will be noted, as a common symptom in Marfan syndrome is an enlarged and weak aorta.
Other imaging tests include an MRI, which helps a doctor look at the size and shape of the aorta. An MRI also allows a doctor to see the spine and look for dural ectasia, or swelling of the spine, which is a common indicator of Marfan syndrome. A computed tomography (CT) scan may also be done to allow the doctor to see the aorta. MRI or CT scans may be needed if the echocardiogram does not show the aorta clearly.
Since the condition also affects the eyes, another Marfan syndrome test is the slit lamp examination. A doctor uses this test to find out if a patient’s lens or retina is detached. During the procedure, the doctor puts drops in a patient’s eyes to dilate the pupils so the doctor can look into the eyes using a microscopy known as a slit lamp.
Other common tests include examining a patient’s bone structure. A doctor will measure the patient’s skeleton and arm span to help diagnose the condition. Usually, patients with Marfan syndrome have a very large arm span.
A genetic test is available to determine if a patient also has Marfan syndrome. The test is usually done only if a diagnosis cannot be made using the other tests. A blood sample is taken and examined for changes in the FBN1 gene. Genetic testing is usually more expensive than other options, but it can be helpful, especially if a member of your family has been diagnosed with Marfan syndrome.
Protect your devices with Threat Protection by NordVPN
