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.
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:
Services and Programs
Services and Programs at Intermountain Heart Institute for patients with Marfan syndrome: