Children's Hospital Colorado
Marfan Syndrome Clinic

Marfan Syndrome

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About Marfan syndrome in children

Marfan syndrome is a genetic disorder that affects the connective tissues that form parts of the lungs, eyes, skin, skeletal system and cardiovascular system. Children with Marfan syndrome are born with a disease-causing, or “pathogenic” change in the gene Fibrillin-1 (FBN1).

Because Marfan syndrome is genetic, the only way to develop the condition is to be born with the gene that causes the disease. Sometimes children inherit this disease-causing gene from one of their parents and sometimes it is new in the child with no history of the gene in other family members.

How does Marfan syndrome affect the heart in children?

Marfan syndrome in children may affect major blood vessels, weakening the wall of the aorta, which is the main blood vessel that carries blood away from the heart to the rest of the body. If left untreated, the aorta can become larger and if it reaches a critical size, it becomes an “aneurysm,” which means it is large enough to cause a tear in the wall of the blood vessel. A tear is called a dissection and can be life-threatening.

In some cases, children with Marfan syndrome have an abnormality in one of the valves inside the heart called the mitral valve. Some individuals have a more “floppy” mitral valve which is called mitral valve prolapse, which can lead to mitral valve leakage and ultimately left heart dysfunction, if left untreated.

Who gets pediatric Marfan syndrome?

About 75% of cases of Marfan syndrome in children happen with a family history of the disease in one of their parents. In some cases, a parent may not even know that they have the condition.

The remaining 25% of children with Marfan syndrome have no family history. This is called “de novo,” meaning that the gene is brand new in that child.

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

Marfan syndrome is often diagnosed early in life, especially when there is a family history. When there is no family history, the condition can be diagnosed in infants, young children and even teenagers. How the condition presents itself and its severity can be different for everyone.

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    Learn more about the Marfan Syndrome Clinic
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Get to know our pediatric experts.

Melanie Everitt, MD

Melanie Everitt, MD

Cardiology - Pediatric

Patient ratings and reviews are not available Why?

Alison Dumond, CPNP-AC/PC

Alison Dumond, CPNP-AC/PC

Certified Pediatric Nurse Practitioner, Certified Pediatric Nurse Practitioner

Aimee Curtis, CPNP-AC

Aimee Curtis, CPNP-AC

Certified Pediatric Nurse Practitioner

Patient ratings and reviews are not available Why?

Kathryn Collins, MD

Kathryn Collins, MD

Cardiology - Pediatric