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Related Heart Conditions

Marfan Syndrome


Medically Reviewed On: July 11, 2006

Although many cases of Marfan do not exhibit symptoms until later, the form of the disorder that manifests itself during childhood tends to be more severe. Among these children, the aorta, which is responsible for carrying blood from the heart to the rest of the body, may have structural abnormalities. The most common is a dilated aortic root, or an expanded section where the aorta connects to the heart. This condition tends to get worse over time and may result in a number of complications, including:

  • Aortic dissection. A tear in the inner lining of the aorta, which leads to the separation of the inner and outer layers and blood leakage into the space between the layers. Aortic dissection is the most common cause of premature death for patients with Marfan syndrome.
  • Aortic aneurysm. A condition in which part of the wall of the aorta widens until its diameter is more than 1.5 times its normal size. A serious and life–threatening complication of an aneurysm is a sudden aortic rupture that can lead to massive internal bleeding.
  • Aortic regurgitation. A condition in which the aortic valve (located between the left ventricle and the aorta) cannot close properly, allowing blood to leak backward instead of flowing forward.
  • Mitral valve prolapse. A condition in which the flaps of the mitral valve (located between the left atrium and left ventricle) cannot close properly. As a result, blood may leak back through the valve (regurgitation), when it should only move forward.
  • Arrhythmias. Abnormal heart rhythms that could result if other heart conditions are left untreated.

In recent years, physicians have made great strides forward in the treatment of Marfan patients. Although there is no cure for the underlying genetic defect, Marfan patients are closely monitored to see if their condition is deteriorating. If the aorta becomes too enlarged, preventive surgery may be recommended. Other aggressive treatment options have helped to push the average lifespan of Marfan patients over 60 years. Life expectancy is longer among women than men.

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