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