How is Marfan Syndrome Diagnosed?
A Marfan diagnosis can often be made after exams of several parts of the body by doctors experienced with connective tissue conditions, including:
- A detailed medical and family history, including information about any family member who may have the condition or who had an early, unexplained, heart-related death.
- A complete physical examination.
You should also have tests to identify Marfan features that are not visible during the physical exam, including:
- Echocardiogram. This test looks at your heart, its valves, and the aorta (blood vessel that carries blood from the heart to the rest of the body).
- Electrocardiogram (EKG). This test checks your heart rate and heart rhythm.
- An eye examination, including a “slit lamp” evaluation to see if the lenses in your eyes are out of place. It is important that the doctor fully dilates the pupils.
- Genetic testing may be helpful when a diagnosis cannot be determined by clinical evaluation only. Additionally, for individuals with a family history of Marfan syndrome, genetic testing can help confirm or rule out the diagnosis of Marfan syndrome in family members who may be at risk.
Frequently Asked Questions
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Is there a genetic test for Marfan syndrome?
Genetic testing can provide helpful information in some cases.
- For individuals with a family history of Marfan syndrome, genetic testing can help confirm or rule out the diagnosis of Marfan syndrome in family members who may be at risk.
- Some of the features of Marfan syndrome can be found in disorders related to Marfan syndrome; therefore, genetic testing may be helpful when a diagnosis cannot be determined through an exam by doctors.
What if you have some features of Marfan syndrome, but the doctor says you don't have Marfan syndrome?
It is possible for you to have one or more features of Marfan syndrome, but not enough for you to have a Marfan syndrome diagnosis. You may need additional exams by other doctors and additional genetic testing to see if you have a condition that is related to Marfan syndrome. Read about the conditions related to Marfan syndrome and how each is diagnosed.
More information is available in our resource, Genetic Testing and Marfan Syndrome >
What should you do if you think you might have Marfan syndrome or a related condition?
If you suspect that you or a family member may have Marfan syndrome or a related condition, we recommend that you:
- Find a doctor who is knowledgeable about genetic conditions
- Compile a health history
- Reach out for information and support