Marfan Syndrome

Marfan Syndrome Causes and Risk Factors

Marfan syndrome is caused by a change in the gene that controls how your body makes fibrillin, an essential part of connective tissue that helps make it strong and elastic.

In most cases, Marfan syndrome is inherited from a parent. It happens equally in men and women, who have a 50% risk of passing the gene to their children. In about 25% of people with the syndrome, the gene changes with no clear cause.

The condition is fairly common, affecting one in 5,000 Americans of all races and ethnic backgrounds.

Marfan Syndrome Complications

Marfan syndrome affects many parts of the body and can lead to  complications, such as:

Aorta damage

This is one of the biggest threats of Marfan syndrome. Your aorta is the artery that carries blood from your heart to the rest of your body. Marfan syndrome can break open the inner layers of the aorta, causing dissection or bleeding in the wall of the vessel. Aortic dissection can be deadly. You may need surgery to replace the affected part of the aorta.

Mitral valve prolapse

Some people with Marfan syndrome also have a condition called mitral valve prolapse that causes a billowing of the heart valve, which may be linked with uneven or rapid heartbeats and shortness of breath. A heart murmur can be another symptom. If you have mitral valve prolapse, it may need surgery.

Eye problems

Marfan syndrome can lead to different eye problems including:

Lens dislocation. The lens in your eye, the part that focuses your vision, may move out of place, a condition called ectopia lentis.

Problems with your retina. You’re at a higher risk of a tear or detachment of your retina, the tissue in your eye that senses light.

Glaucoma or cataracts. Marfan syndrome increases your chances of getting cataracts (cloudy vision) or glaucoma (high eye pressure) at an early age.

Skeletal abnormalities

You’re more likely to have a curved spine, unusual ribs, foot pain, and back pain. Skeletal signs include:

• Long arms, legs, fingers, and toes
• You chest wall sticks out or caves in
• Curved spine
• Flat feet
• Highly arched roof of your mouth with crowded teeth
• Loose joints
• Long and narrow face

Marfan syndrome and pregnancy

Because pregnancy increases the amount of blood in your body, an aorta weakened by Marfan syndrome is at higher risk of a rupture or dissection during pregnancy. If you have Marfan syndrome and want to get pregnant, talk to your doctor about:

• Any heart valve problems or aortic disease
• Your aortic diameter
• Whether you've had aortic surgery

You'll also want to check on your overall health and talk to a high-risk obstetrician about any issues you could have. A genetic counselor can help you understand how your Marfan syndrome may affect your child. When one parent has Marfan syndrome, a baby's chances of having the same condition is 50%.

Marfan Syndrome Diagnosis

Marfan syndrome is present at birth but may not be diagnosed until adolescence or later. Everyone with Marfan syndrome has the same gene change, but not everyone has the same symptoms to the same degree.

To determine whether you have it, your doctor will:

• Do a physical exam of your eyes, heart, blood vessels, and muscle and skeletal systems
• Ask about your symptoms
• Ask for information about family members who may have had the disorder

To check for changes in your heart and blood vessels and detect rhythm problems, your doctor may use other tests, such as:

• A chest X-ray
• An electrocardiogram (EKG)
• An echocardiogram
• Genetic testing

If they can’t see sections of the aorta on an echocardiogram or if they suspect that you might have a dissection, you may need a:

• Transesophageal echocardiogram (TEE)
• MRI
• CT scan

The scans can also check your lower back for signs of dural ectasia, a back problem that is common in people with Marfan syndrome.

Other diagnostic tests for Marfan syndrome include a slit lamp eye exam, in which the doctor will check for dislocated lenses.

Genetic testing alone can’t tell if you have Marfan syndrome. But doctors often use it to confirm your diagnosis.

Other genetic disorders that affect connective tissue include Ehlers-Danlos syndrome, Loeys-Dietz syndrome, MASS phenotype, familial aortic aneurysm, and Stickler syndrome.

Marfan Syndrome Treatment

Marfan syndrome doctors

To get the best treatment, you may need to see more than one doctor. Marfan syndrome affects multiple systems in your body, so your treatment could involve one or more specialists, including:

• Geneticists
• Surgeons
• Cardiologists
• Dental specialists
• Eye specialists (ophthalmologists)
• Orthopedists
• Pulmonologists
• Mental health professionals
• Dermatologists

What Is the Outlook for People With Marfan Syndrome?

A better understanding of Marfan syndrome, combined with earlier detection, regular follow-up care, and safer surgical techniques, has resulted in a better outlook for people with this syndrome now than in the past.

In the past, the average age of death for people with Marfan syndrome was 32. But with the help of early diagnosis, appropriate management, and long-term follow-up care by an experienced team of health care providers, most people with the disorder now live active, healthy lives with a life expectancy similar to that of the general population.

How Does Marfan Syndrome Affect Lifestyle Choices?

Marfan syndrome is a lifelong condition. While you can live a long and happy life, it will affect you in many ways. These include:

• Activity. Most people who have Marfan syndrome can take part in certain types of physical or recreational activities. Those with dilation of the aorta should avoid high-intensity team sports, contact sports, and isometric exercises (such as weightlifting). Ask your cardiologist about what you should and shouldn’t do.
• Pregnancy. Because Marfan syndrome is passed down to children, people who may be at risk should have genetic counseling before getting pregnant. Pregnant women with Marfan syndrome are also considered high-risk cases. If the aorta is normal size, the risk for dissection is lower but not totally gone. Those with even slight enlargement are at higher risk, and the stress of pregnancy may cause more rapid dilation. You should have careful follow-up, with frequent blood pressure checks and monthly echocardiograms, during pregnancy. You may be put on bed rest if there are signs of rapid enlargement or aortic regurgitation. Your doctor will discuss the best method of delivery with you.
• Endocarditis prevention. People with Marfan syndrome who have heart or valve involvement or who have had heart surgery may be at higher risk for bacterial endocarditis. This is an infection of the heart valves or tissue after bacteria enter the bloodstream. To prevent this, you might take antibiotics before dental or surgical procedures.
• Emotional considerations. Learning that you have Marfan syndrome may make you feel angry, frightened, or sad. You may need to make changes in your lifestyle and adjust to having careful medical follow-up the rest of your life. You may have financial concerns. You also need to consider the risk to your future children. The National Marfan Foundation can offer support.

Takeaways

Marfan syndrome is a disease you're born with that changes proteins you need to make connective tissue. You may have symptoms in many parts of your body. Your treatment will depend on how you're affected and may include medicines, other treatments, and surgery.

Marfan Syndrome FAQs

Can Marfan syndrome be cured?

There's no way to cure Marfan syndrome since it's a disease that you inherit. But doctors can do a lot to treat your symptoms and prevent you from having more complications.

What are five facial features of Marfan syndrome?

If you have Marfan syndrome, your face may be long and narrow. You may have deep-set eyes, a small jaw, and flat cheek bones. Your eyes may slant downward. The roof of your mouth may be highly arched, which doesn't leave enough space for your teeth.

How long do people with Marfan syndrome live?

In the past, people with Marfan syndrome often died by the time they were in their 30s. Now many people with Marfan syndrome live into old age.