Overview of Marfan Syndrome

In Marfan syndrome, your connective tissue is weakened, which can lead to problems with your heart and aorta. Marfan syndrome is caused by abnormal production of fibrillin. Fibrillin is a glycoprotein, which is essential for the formation of elastic fibers that provide strength and flexibility to your connective tissue. Marfan syndrome is often inherited, or runs in families. It may affect some patients more severely than others.

Your aorta is the main blood vessel that carries blood from your heart to the rest of your body. In Marfan syndrome, the wall of your aorta is weak. This makes you more likely to develop an aortic aneurysm (enlargement of your aorta) and aortic dissection (tearing of your aorta). Aortic dissection is a life-threatening condition and can be fatal if not detected and emergently treated.

In addition, Marfan syndrome can cause your heart valves to become leaky, which is also called valve insufficiency. The mitral valve commonly shows signs of prolapse, in which the valve leaflets bow back into the heart. The aortic valve may become insufficient due to aneurysm formation of the ascending aorta, which stretches out the valve.

This image shows the enlargement of the ascending aorta (just above the heart) and stretching of the aortic valve that can occur with Marfan syndrome.
This image shows aortic dissection. An aortic dissection begins with a tear in the inner layer of the aortic wall. Blood is channeled into the wall of the aorta separating the layers of tissues. 

Marfan Syndrome in Depth

Diagnosing Complications of Marfan Syndrome

Our cardiologists and heart surgeons have the expertise and technology to screen for complications of Marfan Syndrome. Complications include aortic aneurysm, aortic dissection, and heart valve disease.

Your doctor will order one or more tests on a routine basis to assess the size of your aorta and the function of your heart valves.

  • Peripheral Vascular Study

    This test is an ultrasound of the veins and arteries in your body. It produces an image of your aorta using sound waves. During the study, a technician will take measurements across the length of your aorta to look for enlarged sections.

  • CT (Computerized Tomography)

    This test creates very detailed images of the structures in the body, including your heart and aorta. The CT scanner takes many pictures from different angles by rotating an X-ray tube around the body.

  • MRI (Magnetic Resonance Imaging)

    During an MRI, you lie in a chamber surrounded by a magnetic field. The magnetic force triggers signals from your body’s tissues that a computer then records. The computer uses these recordings to produce high-quality images of your heart and aorta.

  • Listening for a Heart Murmur

    Your doctor can detect a sound, called a heart murmur, when she listens to your heart with a stethoscope. A heart murmur indicates that blood is leaking backward in your heart – a sign of a heart valve disease.

  • Electrocardiogram (EKG)

    This test records the electrical activity of your heart. An EKG provides information about your heart's rate and rhythm. It also diagnoses ischemia (lack of oxygen to the heart muscle), heart attacks, and a variety of other heart conditions.

  • Echocardiogram

    This test is an ultrasound of your heart. It produces images of your beating heart using sound waves. Cardiac Doppler is a feature often used during an echo that reveals the speed and direction of blood flow within your heart. This helps determine how well your heart valves are working.

  • Genetic Testing

    Marfan syndrome is caused by a genetic mutation and it can often run in families. Our Genetic Heart Disease Program can help you and your family members explore genetic testing, family planning, and treatment options.

Treating Complications of Marfan Syndrome

Be reassured, our cardiologists and heart surgeons are here to care for your heart and aorta. You are here to enjoy a long and happy life.

As part of your care with Marfan syndrome, your doctor will prescribe medicine to control your blood pressure. Your doctor will recommend surgery before there is excessive dilation or dissection of your aorta. Depending on your condition, you may also need surgery to repair or replace the leaky or damaged valves in your heart.

The following list has more information on these surgical treatments:

  • Aortic Aneurysm Repair

    Aortic aneurysm repair is a surgery where the dilated portion of the aorta is removed surgically and replaced with a synthetic graft. Some patients can be treated with less invasive procedures, such as placement of an aortic stent-graft.

  • Aortic Root Replacement, Valve Sparing

    Heart surgery where the diseased portion of the aorta can be removed while preserving the aortic valve inside.

  • Mitral Valve Repair/Replacement

    Mitral valve repair or replacement involves heart surgery to repair the mitral valve for many patients, though you may be eligible for less invasive options.

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