What Is Marfan Syndrome?
Marfan syndrome is an inherited disease that affects your body's connective tissue, which gives strength, support, and elasticity to tendons, cartilage, heart valves, blood vessels, and other vital parts of your body.
In people who have Marfan syndrome, connective tissue lacks strength because of its unusual chemical makeup. The syndrome affects the bones, eyes, skin, lungs, and nervous system, along with the heart and blood vessels.
Marfan Syndrome Symptoms
Marfan syndrome is a “variable expression” genetic disorder. This means the signs and symptoms can be different from one person to another. They can also vary in how severe they are, and they can range from mild to life-threatening. Symptoms tend to get worse as you get older.
People with Marfan syndrome may have:
- A tall, thin build
- Disproportionately long arms, legs, fingers, and toes, along with flexible joints
- Curvature of the spine (scoliosis)
- A chest that sinks in or sticks out
- Crowded teeth
- Flat feet
- Heart murmurs
- Stretch marks
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 cause many kinds of complications, such as:
- Damage to the aorta. 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 that causes a billowing of the heart valve, which may be linked with uneven or rapid heartbeats and shortness of breath. It may need surgery.
- 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 issues. You’re more likely to have a curved spine, unusual ribs, foot pain, and back pain.
- Pregnancy complications. 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.
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)
- 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
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:
- Dental specialists
- Eye specialists (ophthalmologists)
You’ll need a treatment plan designed for your specific needs. Some people need regular follow-up appointments with their doctor and, during the growth years, routine cardiovascular, eye, and orthopedic exams.
Your treatment will depend on what’s affected. For example:
- To treat eye problems, you may need glasses, contacts, or even surgery.
- To treat skeletal problems, you may need an orthopedic brace, shoe inserts, or spinal fusion surgery.
Heart issues may require medication or surgery:
Doctors don’t typically use medications to treat Marfan syndrome. But your doctor may prescribe a beta-blocker, which lowers the forcefulness of your heartbeat and the pressure in the arteries, preventing or slowing the enlargement of the aorta. Beta-blocker therapy is usually started when the patient is young.
Some people can’t take beta-blockers because they have asthma or because of side effects, which may include drowsiness, weakness, headaches, a slowed heartbeat, swelling of the hands and feet, or trouble breathing and sleeping. In these cases, you may take a medication called a calcium channel blocker.
Surgery for Marfan syndrome is aimed at preventing aortic dissection or rupture and treating problems affecting your heart's valves, which control the flow of blood in and out of your heart and between its chambers.
The decision to perform surgery is based on the size of the aorta, expected normal size of the aorta, rate of aortic growth, age, height, gender, and family history of aortic dissection. Surgery involves replacing the dilated portion of the aorta with a graft, a piece of man-made material used in place of the damaged or weak area of the blood vessel.
A leaky aortic or mitral valve (the valve that controls the flow of blood between the two left chambers of the heart) can damage the left ventricle (the lower chamber of the heart that is the main pumping chamber) or cause heart failure. In these cases, you need surgery to replace or repair the affected valve. If it’s done early, before the valves are damaged, the aortic or mitral valve may be repaired. If the valves are damaged, they may need to be replaced.
Talk with a surgeon who has experience with surgery for Marfan syndrome. People who have surgery for Marfan syndrome still need life-long follow-up care to prevent complications.
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.
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?
- 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.