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
persons 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.
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