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Heart and Blood Vessels

Problems with the heart and blood vessels are common – and can be very serious – in people with Marfan syndrome and many related conditions. That’s why an early and accurate diagnosis is vital.

The most common of these problems affects the aorta, the main blood vessel carrying blood from the heart to the rest of the body. Heart valves can also have problems. Less often, people have problems in blood vessels other than the aorta.

Even though heart and blood vessel problems affect about 9 out of every 10 people diagnosed with Marfan syndrome, there is good news. If you get diagnosed, you have a lot of options, including having surgery, taking medications and changing your physical activities. With treatment, you have a good chance of avoiding a life-threatening situation.

Types of cardiovascular problems

Aortic enlargement

In a person with Marfan syndrome or some related disorders, the aorta may become enlarged (aortic dilation) or the walls of the aorta may bulge (aortic aneurysm). These are very serious problems because a significantly enlarged aorta is at risk for tearing or rupture (aortic dissection). For most people with Marfan syndrome, the problem starts in the segment of the aorta closest to the heart.

Aortic tear or rupture

A tear or rupture between layers of the aortic wall is called an aortic dissection. When this happens, people experience severe pain in the center of their chest, stomach, or back. They may describe the pain as “sharp,” “tearing” or “ripping.”  The location of the pain may change. Sometimes, the pain is less severe, but people still have the feeling that “something is very wrong.” If a dissection is suspected, a person needs immediate medical attention and should go to a hospital emergency department right away.

There are two types of aortic dissection:

  • Dissection of the ascending aorta. This is the most common dissection in Marfan syndrome and it’s life-threatening. When it happens, a person needs immediate surgery.
  • Dissection of the descending aorta: This can often be managed with medication and monitoring. A person only needs surgery if they have serious complications, such as loss of blood flow to vital organs or an aorta that is seriously enlarged.

Mitral valve prolapse

Mitral valve prolapsed is a condition in which the flaps of one of the heart’s valves (the mitral valve, which regulates blood flow on the left side of the heart) are “floppy” and don’t close tightly. Symptoms can include irregular or rapid heartbeats and shortness of breath. Some people also have leaking of the mitral valve. A small amount of leaking is usually not a problem, but a person may need surgery if the mitral valve leaks a lot.

Aortic regurgitation

Aortic regurgitation is when the aortic valve does not fully close and blood leaks back into the heart. This often happens when the aorta is enlarged and the valves cannot fully come together. The only symptoms a person may have are forceful heartbeats and shortness of breath during light activity.

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