Marfan Syndrome is a condition that affects the connective tissue of the body and causes damage to the heart, aorta, and other parts of the body. This complex condition requires a specialized and experienced approach to care.

Changes to the heart and blood vessels with Marfan syndrome

About 90% of people with Marfan syndrome develop changes in their heart and blood vessels:

Blood Vessels

The walls of the blood vessels, especially the aorta, the major artery that carries blood from the heart to the rest of the body, becomes weak as a result of Marfan syndrome and dilates (stretches).

This increases the risk of the following:

  • aortic aneurysm (a bulging out, similar to a balloon),
  • aortic dissection (a tearing or separating of the layers of the aorta)
  • aortic rupture (bursting), which can result in medical emergency or even death.

Heart

The heart's valves, especially the mitral valve, can be affected by Marfan syndrome. The valve leaflets become floppy due to Marfan syndrome and do not close tightly, allowing blood to leak backwards across the valve (mitral valve prolapse, also called MVP).

Mitral valve prolapse increases the workload on the heart and may cause shortness of breath, feeling overly tired, or palpitations (fluttering in the chest). The abnormal flow may cause a heart murmur, which can be heard with a stethoscope. Over time, the heart may enlarge and heart failure may occur.

Another problem seen in Marfan syndrome is dilation (widening) of the aortic root, the area where the aorta meets the aortic valve. Marfan syndrome can cause the aortic valve to become stretched and leak.

Arrhythmia (abnormal heart rhythm) may occur in some Marfan syndrome patients. This is often related to MVP.

Reviewed: 10/12