Marfan syndrome is a connective tissue disorder caused by abnormal production of fibrillin. The disorder is often inherited and affects each individual patient in varying degrees.
Organ systems involved with Marfan syndrome include:
The aortic wall is weakened in Marfan syndrome, and patients are prone to development of aortic aneurysm (dilation 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 left atrium. The aortic valve may become insufficient due to aneurysm formation of the ascending aorta.
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 kept in place.
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.