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.

Programs & Treatments

How do doctors treat Marfan syndrome?

While there is no cure for Marfan syndrome, it is possible to treat nearly all of its symptoms. With modern treatments, the life expectancy for people with Marfan syndrome is near normal and most children with the condition live healthy, normal lives.

At Children's Hospital Colorado, our specialty doctors will help your child manage his or her symptoms. Our ophthalmologists can treat any eye complications your child may develop as a result of Marfan syndrome. The orthopedics department can help your child with skeletal complications, such as scoliosis, a curvature of the spine.

At our Heart Institute, we can monitor and treat any weakening of the aorta, the most significant issue that affects children with Marfan syndrome. Our cardiologists use medication to decrease the stress placed on the aorta, and in some cases, our cardiothoracic surgeons may recommend surgery to replace an aorta that has been significantly weakened by Marfan syndrome. Our surgical staff also repairs leaky heart valves associated with the condition.

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

Signs & Symptoms

What are some of the signs or symptoms of Marfan syndrome?

Because Marfan syndrome affects nearly every type of tissue in the body, there are many signs.

The most noticeable sign is abnormal body proportions. Children with Marfan syndrome have extremely long arms, legs, fingers and toes. Other signs to look for are:

• Scoliosis, a curve of the spine to one side of the body
• Crowded teeth and a small, very high, arched roof of the mouth
• Flat feet without a normal arch
• A chest that sticks out or caves in at the center
• Joints that are too flexible
• Nearsightedness

A more serious sign of Marfan syndrome is a collapsed lung.

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

Diagnosis & Tests

How do doctors diagnose Marfan syndrome?

If your child's doctor suspects Marfan syndrome might be causing some of your child's medical conditions, he or she will likely order more tests to be sure. Fibrillin-1 mutation testing may tell the doctor if your child has the gene mutation that causes Marfan syndrome.

Your child's cardiologist will perform an echocardiogram (ECHO) to examine the structure and function of the heart. This test will also give the doctor information about the size of your child's aorta.

Helpful resources

If you’d like to learn more about Marfan syndrome, visit:

• National Marfan Foundation
• Children’s Hospital Colorado Health Library
• The American Heart Association
  

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