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Marfan Syndrome: Overview

What is Marfan syndrome?

Marfan syndrome is a genetic disorder that affects the connective tissues that form part of body systems including the lungs, eyes, skin, skeletal system and the cardiovascular system. Children with Marfan syndrome are born with an abnormal copy (also known as a genetic mutation) of the gene Fibrillin-1.

Because Marfan syndrome is genetic, the only way to develop the condition is to be born with the gene that causes the disease.

How does Marfan syndrome affect the heart?

If your child has Marfan syndrome, it may affect his or her heart by weakening the wall of the aorta (the main blood vessel that carries blood away from the heart to the rest of the body). If left untreated, the aorta can enlarge, and if it reaches a critical size, it may tear.

In some cases, children with Marfan syndrome have an abnormality of one of the valves inside the heart known as the mitral valve.

Who gets Marfan syndrome?

More than 70% of cases of Marfan syndrome happen in children with a family history of the disease. Many times a parent may not even know that he or she has the disease.

The remaining 30% of children with Marfan syndrome have no family history. This is called a spontaneous mutation.

Neither family-related Marfan syndrome nor spontaneous Marfan syndrome is preventable, but the symptoms of Marfan syndrome are very treatable.

Learn more about our Marfan Syndrome Clinic for the treatment of this condition.