Genetics Home > Marfan Syndrome Diagnosis

In order to diagnose Marfan syndrome, your doctor or geneticist will rely on observation, a complete medical history, a physical exam, and tests. If you have a family history of the disease, you can be diagnosed if there are specific problems in at least two body systems. Otherwise, you must have problems in at least three body systems before a diagnosis will be made.

An Introduction to Diagnosing Marfan Syndrome

There is no specific laboratory test that is used to make a Marfan syndrome diagnosis. Your doctor or geneticist (a doctor with special knowledge about inherited diseases) will rely on:
  • Observation
  • A complete medical history
  • A physical exam
  • Certain tests.

Medical History, Physical Exam, and Tests

In order to make a diagnosis, doctors begin by asking a number of questions (medical history). Your doctor will be looking for information regarding family members who may have Marfan syndrome or family members who had an early, unexplained heart-related death.
After the medical history, your doctor will perform a thorough physical examination, which will include an evaluation of the skeletal frame.
Your doctor may also do an eye examination, including a "slit lamp" evaluation and a heart test such as an echocardiogram (a test that uses ultrasound waves to examine the heart and aorta).

Criteria for a Marfan Syndrome Diagnosis

Doctors can diagnose Marfan syndrome if the patient has a family history of the disease, and if there are specific problems in at least two of the body systems.
Patients who do not have a family history of Marfan syndrome must have problems in at least three body systems before a Marfan syndrome diagnosis will be made. In addition, two of the body systems must show clear signs that are relatively specific to Marfan syndrome.
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Last reviewed by: Arthur Schoenstadt, MD
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