Genetics Home > Symptoms of Marfan Syndrome

Heart and Blood Vessels (Cardiovascular System)
Most people with Marfan syndrome symptoms have abnormalities associated with the heart and blood vessels.
Faulty connective tissue can cause the wall of the aorta (the large artery that carries blood from the heart to the rest of the body) to weaken and stretch. This process is called aortic dilatation. Aortic dilatation increases the risk that the aorta will tear (aortic dissection) or rupture, causing serious heart problems or sudden death.
Defects in the heart valves may also cause problems. In some cases, certain valves may leak, creating a "heart murmur," which a doctor can hear with a stethoscope. Small leaks may not result in any symptoms, but larger leaks may cause shortness of breath, fatigue, and palpitations (a very fast or irregular heart rate).
Nervous System
The brain and the spinal cord are surrounded by dura, which is a fluid contained by a membrane and composed of connective tissue. As people with Marfan syndrome get older, the dura often:
  • Weakens and stretches
  • Begins to weigh on the vertebrae in the lower spine
  • Wears away the bone surrounding the spinal cord.
This process is called dural ectasia. Dural ectasia may cause:
  • Mild discomfort
  • Radiated pain in the abdomen
  • Pain, numbness, or weakness of the legs.
Many people with Marfan syndrome symptoms develop stretch marks on their skin even though they may not have any changes in weight. These stretch marks can occur at any age and pose no health risk. However, people with Marfan syndrome have an increased risk for developing an abdominal or inguinal hernia, which is a bulge that develops containing part of the intestines.
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Last reviewed by: Arthur Schoenstadt, MD
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