Making the Diagnosis
There's no specific lab test for Marfan's syndrome. However, there are tests that can check for the defective gene or test for protein defects characteristic of this condition. People who have Marfan's syndrome and go on to have children may want to consider gene testing so that complications of the syndrome can be detected and treated early. Because there are limits to genetic testing, testing needs to be done by someone who is familiar with Marfan's syndrome and the testing limitations.
A doctor may suspect Marfan's syndrome based on particular symptoms of its complications. The doctor will ask questions relating to a patient's family and medical history. A thorough physical examination will be supplemented with the following tests:
- chest X-rays, an echocardiogram (which gives a sound-wave "picture" of the heart), and an electrocardiogram (EKG) that provides information on how well the heart's functioning
- a complete skeletal examination to look for scoliosis
- a detailed eye examination called a slit lamp examination
- computed tomography (CT) and magnetic resonance imaging (MRI) scans
A diagnosis of Marfan's syndrome is made when certain criteria, called Ghent criteria, are met. There are major criteria and minor criteria involving parts of the body (e.g., bones, joints, eyes, heart, lungs) that are affected by Marfan's syndrome.
When someone is diagnosed with Marfan's syndrome, specialists such as cardiologists, orthopedic surgeons, and ophthalmologists are usually consulted.
In some cases, an ophthalmologist might even be the first one to detect signs of Marfan's syndrome.