Intermountain Heart Institute at Intermountain Medical Center

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Overview of Marfan Syndrome

Marfan syndrome is a connective tissue disorder 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 connective tissue. Marfan syndrome is often inherited and affects each individual patient in varying degrees.

The wall of the aorta, the main blood vessel that carries blood from the heart to the rest of the body, is weakened in Marfan syndrome. Patients are prone to development of aortic aneurysm (enlargement of aorta) and aortic dissection (tearing of aorta). Aortic dissection is a life-threatening condition and can be fatal if not detected and emergently treated.

The heart valves may become insufficient (leaky) in Marfan syndrome. The mitral valve commonly exhibits 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

Treatments for Marfan Syndrome

Treatment of aortic aneurysm in patients with Marfan syndrome requires control of blood pressure and regular imaging with echocardiography or CT scanning to monitor for continued enlargement. Surgery should ideally be performed before there is excessive dilation or dissection. Many patients will be candidates for valve-sparing operations, during which the aneurysm is replaced and the patient's own aortic valve is preserved.

Treatment of mitral valve disease in patients with Marfan syndrome involves careful monitoring until there is excessive leakage or symptoms. Surgical options include repair and reconstruction of the valve if possible, or valve replacement with a prosthetic valve.

  • 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 less invasive options may also be considered.

Services and Programs

Services and Programs at Intermountain Heart Institute for Patients with Marfan Syndrome

  • Center for Aortic Disease

    The Center for Aortic Disease focuses on the care of patients with aortic disease using the most advanced surgeries and less invasive repairs.

 
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