Marfan syndrome

What is Marfan syndrome?

Marfan syndrome is a condition that weakens the body’s connective tissue. Connective tissue is everywhere in your body. It supports and holds together all the organs and other parts of your body. A person with Marfan syndrome has trouble making a protein called fibrillin. The body needs fibrillin to make connective tissue strong. Marfan syndrome can lead to problems in many parts of the body, including the heart, lungs, bones and eyes.

Marfan syndrome is a birth defect. Birth defects are health conditions that are present at birth. Birth defects change the shape or function of one or more parts of the body. They can cause problems in overall health, how the body develops, or in how the body works.

Marfan syndrome affects about 1 in 5,000 people in the United States. It can happen in both boys and girls of any race or ethnic background.

How do you know if your child has Marfan syndrome?

Signs and symptoms of Marfan syndrome are different for everyone. Sometimes they appear when a child is very young, or they may not show up until later in life as a teenager or an adult. Someone with Marfan syndrome often:

• Is very tall and thin
• Has loose, flexible joints
• Has long arms, legs, fingers and toes
• Has flat feet
• Has a long, narrow face
• Has teeth that are too crowded
• Has a high roof of the mouth

Health care providers can diagnose Marfan syndrome by reviewing your family health history and giving your child medical tests. Your family health history is a record of any health conditions and treatments that you, your partner and everyone in your families have had. Tests for Marfan syndrome usually include:

• A physical exam
• An eye exam
• Heart tests, like an electrocardiogram (also called EKG) and an echocardiogram. An EKG measures electrical activity in your heart. An echocardiogram is a kind of ultrasound that looks at the heart and blood vessels. Ultrasound is a kind of test that uses sound waves and a computer screen to show a picture of body parts.
• An MRI (stands for magnetic resonance imaging) or CT (stands for computed tomography) scan (also called a CAT scan) to look at the connective tissue around the spinal cord or to check the aorta. The aorta is the main blood vessel in the heart that carries blood and oxygen to the rest of the body.
• A genetic test. This is a medical test that looks for changes in genes that can cause birth defects or other medical conditions.

A genetic counselor can help explain the results of genetic tests. A genetic counselor is trained to help you understand about how genes, birth defects and other medical conditions run in families and how they can affect your health and your baby’s health.

People with Marfan syndrome can have a range of health problems, so it’s important to take your baby to all of her well-baby checkups. Her health care provider can look for health conditions caused by Marfan syndrome.

What kinds of heart and blood vessel problems can Marfan syndrome cause?

Marfan syndrome can weaken blood vessels and tissue around the heart and stretch and weaken the walls of the aorta. This can cause the aorta to tear or burst (called aortic dissection), which can be life-threatening.

Marfan syndrome also can cause problems in the heart’s mitral valve. This valve controls some of the heart’s blood flow. Tiny flaps in the mitral valve keep the blood flowing in one direction. Marfan syndrome can cause the flaps to be large and floppy, which keeps them from closing properly. When this happens, blood can leak backwards during a heartbeat. This condition is called mitral valve prolapse; it may cause an irregular or fast heartbeat and breathing problems.

If your child has Marfan syndrome, a pediatric cardiologist (a doctor with special training in heart conditions in children) checks his heart at least once a year with an echocardiogram. Sometimes providers recommend treatment with blood pressure medicines to help the heart beat more slowly and with less force. Surgery may be needed if the wall of the aorta keeps getting weaker. Surgery also can repair or replace heart valves that are not working right.

If your child has an artificial heart valve, she may need to take antibiotics before going to the dentist. Antibiotics are medicines that kill infections caused by bacteria. Teeth cleaning, fillings and other dental work can put bacteria into the blood, which can cause a heart infection. Antibiotics can help prevent these infections. 

Being around secondhand smoke can cause heart problems for children with Marfan syndrome. If your child has Marfan syndrome, don’t smoke around him and keep him away from people who smoke.

It’s best for children with Marfan syndrome to avoid activities that put extra stress on the heart. They may need to avoid heavy exercise or playing rough sports like basketball or football. Check with your child’s health care provider about what activities are safe.

What kind of bone problems can Marfan syndrome cause?

People with Marfan syndrome may be at risk of having bones with abnormal curves, like having a spine that curves sideways (called scoliosis). If your child has Marfan syndrome, an orthopedist (a doctor with special training in bone conditions) checks her each year for scoliosis. Most children with mild scoliosis don’t need treatment. If scoliosis is severe, some children may need a brace or surgery.

What kind of eye problems can Marfan syndrome cause?

A common problem in Marfan syndrome is a dislocated lens in one or both eyes. In this condition, the lens (the part of the eye that helps focus light) shifts out of place. This can affect how well a person sees. A dislocated lens often is the first sign that someone has Marfan syndrome. Other eye complications include:

• Being nearsighted. This is when you have trouble seeing things that are far away.
• Early glaucoma. Glaucoma is high pressure in the fluid in the eyes.
• Early cataracts. Cataracts cloud the eye’s lens.
• Detached retina. The retina is tissue at the back of the eye that’s sensitive to light. When it’s detached, it separates from other tissues around it.

If your child has Marfan syndrome, an ophthalmologist (a doctor with special training in eye conditions) checks his eyes each year for vision problems. Most eye problems are treated with glasses or contact lenses. When cataracts and glaucoma are treated early, vision problems may be prevented or be less serious. Retina problems can be treated with surgery.

What kind of lung problems can Marfan syndrome cause?

Marfan syndrome can cause lung conditions that can make it hard for a person to breathe, including restrictive lung disease, collapsed lung, emphysema and asthma. People with Marfan syndrome also may have sleep apnea. This is when a person’s breathing stops and starts during sleep.

Treatment for these conditions may include oxygen, medicine and special therapies to help the lungs work better. A collapsed lung may be treated with a chest tube (a tube placed in the chest to help remove air) or surgery. For sleep apnea, a provider may recommend a mouthpiece that helps keep your child’s airways open, a continuous positive airway pressure (also called CPAP) machine that blows air into the nose, or surgery.

Secondhand smoke can cause lung problems for children with Marfan syndrome. Secondhand smoke is smoke from someone else’s cigarette, cigar or pipe. If your child has Marfan syndrome, don’t smoke around him and keep him away from people who smoke.

What causes Marfan syndrome?

Marfan syndrome is caused by a gene change (also called a mutation). This is a change to instructions that are stored in a gene. Genes are parts of your body’s cells that store instructions for the way your body grows and works. A gene change sometimes can cause birth defects and other health conditions.

Marfan syndrome usually is inherited. This means the gene change that causes Marfan syndrome is passed from parent to child. If one parent has Marfan syndrome, there’s a 1-in-2 chance (50 percent) that their baby will have it, too. Only babies who get the gene change have Marfan syndrome. If you or a family member has Marfan syndrome, talk to a genetic counselor to learn more about the chances of your baby having it.

About 1 in 4 children (25 percent) with Marfan syndrome don’t inherit the gene change from a parent. Instead, the gene changed happens during the baby’s development in the womb.

Last reviewed October 2015

More information

The Marfan Foundation