What is the meaning of Marfan?

Overview. Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton.

How do you evaluate Marfan syndrome?

If your doctor suspects Marfan syndrome, one of the first tests he or she may recommend is an echocardiogram. This test uses sound waves to capture real-time images of your heart in motion. It checks the condition of your heart valves and the size of your aorta.

Are there different levels of Marfan syndrome?

Marfan syndrome can be mild to severe, and may become worse with age, depending on which area is affected and to what degree. In Marfan syndrome, the heart is often affected. The aorta, the major artery of the body, may be more dilated (widened) than average.

How did Marfan syndrome get its name?

In 1896 Dr. Antoine Marfan, a French paediatrician, first described what was later to be named “Marfan Syndrome” in a little girl that had very long fingers and limbs. Although Marfan syndrome was named after him because of his discovery, it was later found that the little girl suffered from another, related disease.

What does it mean if you have Marfan syndrome?

But some people with Marfan syndrome are the first in their family to have it; when this happens it is called a spontaneous mutation. There is a 50 percent chance that a person with Marfan syndrome will pass along the genetic mutation each time they have a child.

Where does an aortic dissection occur in Marfan syndrome?

This can occur anywhere in your aorta. Having an aneurysm increases the risk of an aortic dissection — a tear in the lining of the aorta, shown in the image on the right. Lens dislocation. Lens dislocation Some people who have Marfan syndrome may experience the dislocation of the lens in their eye.

How is the subluxation of the lens detected in Marfan syndrome?

Subluxation (partial dislocation) of the lens can be detected clinically in 80% of people with Marfan syndrome by the use of a slit-lamp biomicroscope. If the lens subluxation is subtle, then imaging with high-resolution ultrasound biomicroscopy might be used.

How does a mutation in TGF cause Marfan syndrome?

This mutation results in an increase in a protein called transforming growth factor beta, or TGF-β. The increase in TGF-β causes problems in connective tissues throughout the body, which in turn creates the features and medical problems associated with Marfan syndrome and some related conditions.