Cardiovascular (heart and blood vessel) problems are common in people with Marfan syndrome. In fact, 9 out of 10 people with Marfan syndrome experience cardiovascular problems. The most serious problem is enlargement of the aorta (the main blood vessel that carries blood away from the heart). Heart valves can also be affected. Less often, people have problems in blood vessels other than the aorta.
Diagram of the Heart and Aorta
Types of Cardiovascular Problems
Caring for Cardiovascular Problems
What You Can Do
The following diagram shows the main sections of the heart and aorta. As you can see, the aorta has four segments.
1) aortic root and ascending aorta
2) aortic arch
3) descending thoracic aorta
4) abdominal aorta.
TYPES OF CARDIOVASCULAR PROBLEMS
Here are some facts about common types of heart and blood vessel problems in people with Marfan syndrome:
Aortic Dilation and Aortic Aneurysms
These are very serious cardiovascular problems because a significantly enlarged aorta is at risk for dissection (tear) or rupture. Aortic dilation (enlarged aorta) and aortic aneurysms (bulging sides of the aorta) can occur along any segment of the aorta. For most people with Marfan syndrome, the problem starts in the aortic root (aortic segment closest to the heart.)
Doctors use a person’s age, height, and weight to determine whether the aorta is enlarged. For this reason, people with Marfan syndrome should talk with their doctors about what size aorta is within normal limits for them.
This happens when there is a tear between layers of the aorta. Most people know when this happens because of severe pain in the center of their chest, abdomen (stomach), or back. The pain may be “severe”, “sharp”, “tearing”, or “ripping” and may travel from the chest to the back and/or abdomen. Sometimes, the pain is less severe, but a person still has a feeling that “something is very wrong.” If a dissection is suspected, a person needs to go to a hospital emergency room right away. There are two types of aortic dissection:
- Dissection of the ascending aorta. This is the most common dissection in Marfan syndrome. It is life-threatening (people can die if not treated right away). If this kind of dissection happens, people need immediate surgery.
- Descending aortic dissection. This can often be managed just with medication and monitoring (watching). People only need surgery if they have serious complications. These include loss of blood flow to vital organs or an aorta that is severely dilated.
Mitral Valve Prolapse
This is a "billowing" (motion) of the mitral valve when the heart contracts. Symptoms can include irregular or rapid heartbeats and shortness of breath. Some people also have mitral valve regurgitation (leaking of the mitral valve). A small amount of leaking is often not a problem, but a person may need surgery if the mitral valve leaks a lot.
This is when the aortic valve does not fully close and blood leaks back into the heart. The only symptoms a person may have are forceful heartbeats and shortness of breath during light activity. Aortic regurgitation often happens because of aortic dilation (when the aorta is so enlarged that the valves cannot fully come together).
CARING FOR CARDIOVASCULAR PROBLEMS
Cardiovascular (heart and blood vessel) problems are common in people with Marfan syndrome. In fact, cardiovascular problems affect about 9 out of every 10 people diagnosed with Marfan syndrome. It is important that people with Marfan syndrome know about cardiovascular problems and ways to prevent or manage them.
Medications (drugs) can help treat many types of cardiovascular problems. Medications include:
- Beta-blockers. These help lower blood pressure and reduce the force of heartbeats. These medications may help prevent or slow down aortic dilation (enlarged aorta) and can reduce the risk of aortic dissection (tears between layers of the aorta). For many people with Marfan syndrome, beta-blockers are a first choice medication.
- Calcium-blockers (such as verapamil). These help lower blood pressure and make heartbeats less forceful. This medication is often used by people who have depression, asthma, or severe side effects from beta-blockers.
- Angiotensin receptor blockers (ARB’s). Recent research has shown that one ARB drug, Losartan, can prevent aortic growth in special Marfan mice. A clinical trial (research study) is now underway to compare this medication to beta-blockers in people who have Marfan syndrome.
Tests to Monitor Cardiovascular Problems
People with Marfan syndrome must have tests to monitor (watch for) cardiovascular problems. These help find problems before there is an emergency. Here are some tests doctors often use.
- Echocardiogram. This shows all the heart structures including blood valves and the part of the aorta closest to the heart.
- MRI or CT scans. These show all segments of the aorta.
- TEE. This is a special type of echocardiography that shows the ascending and descending thoracic aorta in addition to the heart valves.
Most people with Marfan syndrome who have heart problems are helped by “planned surgery.” This means having surgery before there is an aortic dissection or other life-threatening problem. After surgery, people must take blood pressure medication and will need tests (such as CT or MRI scans) at least once a year. Some people need more surgery later on. Here are some common types of surgery for people with Marfan syndrome.
- Repair of the ascending aorta. This is done when the aorta reaches a certain size. Doctors know this by looking at: the size of the aorta; rate of aortic growth; whether the valve is leaking; and family history (if other family members have had aortic dissection). While surgery has risks and benefits, studies show that this type can be very helpful when done by doctors experienced in treating people with Marfan syndrome.
- Aortic or mitral valve repair or replacement. Aortic valve surgery is often done along with surgery to repair the ascending aorta. A person needs mitral valve surgery if the mitral valve leaks so much that the heart must pump extra hard. People whose heart valves are replaced with a mechanical valve must take blood thinners for the rest of their lives. They also will need to take antibiotics before any dental work.
- Repair of the descending thoracic or abdominal aorta. This surgery is done when there is a sudden or large change in the size of the descending thoracic or abdominal aorta or if these parts of the aorta reach a very large size. As with the other types of surgery, it has both risks and benefits and should be done by doctors experienced in treating people with Marfan syndrome.
See Aortic Surgery for more information.
WHAT YOU CAN DO
- Have an echocardiogram (echo) or other heart study at least once a year. Your doctor may want you to have more frequent echos (every three to six months) to make sure your aorta is growing very little or not at all.
- Do not put extra stress on your aorta. You should only do gentle exercise such as going for a walk instead of a jog or riding your bicycle slowly, not fast. Do not play basketball, football, soccer, or other competitive sports. Make sure that your job does not require any heavy lifting. Read more about physical activity guidelines.
- Learn about cardiovascular problems and ways to treat them. People with Marfan syndrome often need to teach others about this condition. You can help by talking with family members and your health care team about cardiovascular problems that may affect you. Be prepared in the event of an emergency with our Emergency Information Packet Template.
- Talk with the healthcare team if your child has Marfan syndrome. Sometimes doctors suggest medication for very young children.
- Let your doctor know if you are, or plan to be, pregnant. There are special risks and treatments for pregnant women who have Marfan syndrome. Read Pregnancy and Reproduction for more information.
For additional resources on cardiovascular related issues, see the "Heart of the Matter" plain language fact sheet library.