Marfan Syndrome

Marfan Syndrome Latest News

Researchers recently published the first molecular characterization of Marfan syndrome in domestic cats.

About Marfan Syndrome

• It is a genetic condition that affects the connective tissue in the body. 
• Connective tissue helps support structures in the body, including organs, bones, and blood vessels. 
• It most commonly affects the heart, eyes, blood vessels, and bones. 

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Marfan Syndrome Cause

• It is a hereditary condition.
• There’s a change in the fibrillin-1 or FBN1 gene that gives your cells instructions to make fibrillin, a protein. 
• This protein helps connective tissue stay strong and flexible.  

Marfan Syndrome Symptoms

• Some people have only mild damage caused by Marfan syndrome, but others can have serious health issues. 
• The symptoms can be different from person to person, even among members of the same family. 
• Common Symptoms Include:
  • Tall, thin body.
  • Long arms, legs, fingers, or toes.
  • A chest that sticks out or sinks in.
  • Crowded teeth and a high, arched roof of the mouth.
  • Heart murmurs.
  • Very poor eyesight or nearsightedness.
  • A curved spine.
  • Flat feet.
• Changes in the chest wall and spine can cause shortness of breath and back pain.
• The most serious risk is damage to the aorta, the large blood vessel that carries blood from your heart to the rest of your body. 
• If the aorta becomes weak or tears, the condition can become life-threatening. 
• Changes to the heart and the aorta usually do not produce symptoms until they are advanced or until an emergency occurs.

Marfan Syndrome Treatment

• There’s no cure for Marfan syndrome, so treatment focuses on managing the symptoms and reducing the risk of complications.
• Treatment usually includes medicines to keep your blood pressure low. This helps reduce the strain on your aorta.  
• Many people with Marfan syndrome eventually require preventive surgery to repair the aorta.

News: PHYS