Patient education: Marfan syndrome (The Basics)

What is Marfan syndrome? — Marfan syndrome is a condition that involves the body's connective tissues. The connective tissues make up and support the skin, bones, blood vessels, and other organs. People with Marfan syndrome have a problem with their connective tissues. Because of this, they can:

●Have certain body features (listed below)

●Have medical problems that can affect the heart, blood vessels, eyes, joints, and other parts of the body

Marfan syndrome is a condition people are born with. It is caused by an abnormal gene. In most cases, people get Marfan syndrome because they get the abnormal gene from 1 or both of their parents. But in some cases, the abnormal gene does not come from either parent, but appears on its own.

What are the body features of Marfan syndrome? — People with Marfan syndrome sometimes have certain body features that include:

●A tall, thin body type with long arms, legs, and fingers

●A chest that sinks in or sticks out

●Flexible joints

●Flat feet

●A curved spine, called scoliosis (picture 1)

●Stretch marks on the skin that were not caused by weight gain or loss

But many people with these body features do not have Marfan syndrome.

What medical problems does Marfan syndrome cause? — Marfan syndrome can cause:

●Problems with the aorta, which is the big artery that carries blood from the heart to the body – These problems usually involve the first part of the aorta, called the aortic root. The walls of the aorta get weak and the aorta can widen. A widened aorta is called an aneurysm. This can lead to serious problems such as:

•An "aortic dissection" – This is when the inner wall of the aorta tears.

•An "aortic rupture" – This is when the widened aorta tears open completely.

An aortic dissection or rupture is an emergency and can cause lots of internal bleeding. If this happens, the aorta might not supply enough blood to the body's organs.

●Heart valve problems

●Eye problems

●A lung problem called a pneumothorax – This is when air leaks out of the lung and the lung collapses (figure 1).

Is there a test for Marfan syndrome? — Yes. To check for Marfan syndrome, your doctor or nurse will:

●Ask whether your family members have Marfan syndrome

●Do an exam – They will look at your body features and look in your eyes with a special light.

●Do a test called an echocardiogram (also called an "echo") – This test uses sound waves to create pictures of your heart as it beats (figure 2). It can show your heart valves and how wide your aorta is

They might also order a blood test to check for an abnormal gene. In some cases, this test helps tell whether you have Marfan syndrome.

Your doctor or nurse will check for Marfan syndrome if you have body features of the condition. They might also check for Marfan syndrome if you have a closely-related family member with the condition.

How is Marfan syndrome treated? — Treatment depends on your symptoms and condition and can involve:

●Regular exams and tests to monitor your condition

●Medicines – Medicines can reduce the risk of problems with the aorta. Your doctor might prescribe a medicine called a "beta blocker," which lowers your blood pressure and reduces the work of your heart. They might instead, or also, give you a medicine called an "angiotensin receptor blocker," which lowers blood pressure.

●Avoiding certain kinds of exercise – Certain activities can increase the risk of problems with the aorta for people with Marfan syndrome. This includes contact sports, intense exercise, and things like straining to lift weights or do sit-ups. Ask your doctor which activities are OK and which to avoid. They can suggest ways to get exercise while reducing the risk of problems.

If your child has Marfan syndrome, talk with his or her school or caregiver about which activities are OK, and which should be avoided. If there is something your child can't do, for example in gym class, the school should have a plan for activities they might be able to do instead.

●Surgery to fix your aorta before a serious problem happens

●Emergency surgery to fix your aorta if an aortic dissection or rupture happens

Other treatment depends on the problems you have. For example, people with eye problems need to be treated by an eye doctor, called an ophthalmologist. People with scoliosis might need to wear a back brace or have surgery to fix their spine.

You might find a support group for people with Marfan syndrome helpful. To find more information, you can go to The Marfan Foundation's website, www.marfan.org.

Should my family members be tested for Marfan syndrome? — Yes. If you have Marfan syndrome, ask your doctor about testing your family members for the condition.

What if I want to get pregnant? — If you want to get pregnant, talk with your doctor or nurse before you start trying. If you or your partner has Marfan syndrome, you might pass on the gene that causes it to your child. You might want to talk with a genetic counselor, a person who specializes in genetic conditions.

Your doctor will also talk with you about possible problems people with Marfan syndrome can have during pregnancy and delivery. Pregnancy increases the chance of having an aortic dissection. Because of this, your doctor might recommend that you have surgery to fix your aorta before you try to get pregnant. They will also make sure that your medicines are safe to take during pregnancy.

During your pregnancy and delivery, you will be closely monitored by a team of specialists who have experience caring for pregnant people with Marfan syndrome.

More on this topic

Patient education: Aortic dissection (The Basics)
Patient education: Echocardiogram (The Basics)
Patient education: Pneumothorax (collapsed lung) (The Basics)
Patient education: Scoliosis (The Basics)
Patient education: Thoracic aortic aneurysm (The Basics)