What Is Marfan Syndrome?
7. Diagnosis
Marfan syndrome is not the only connective tissue disorder, and the symptoms of each are similar. Therefore, making a positive diagnosis of MFS can be tricky. It may start with a genetic test to check for defects, then require testing for additional features of Marfan syndrome.
For example, the patient may need an eye exam to screen for glaucoma and cataracts and to determine the accuracy of the patient’s vision. It is crucial to identify any cardiovascular symptoms, so the patient may have an electrocardiogram to assess heart rate and an echocardiogram to look for problems with the aorta.
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