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.
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
Marfan Syndrome FAQs
Q1: What is Marfan syndrome?
Ans: Marfan syndrome is a genetic condition that affects the connective tissue in the body.
Q2: Which organs and body structures are commonly affected by Marfan syndrome?
Ans: The heart, eyes, blood vessels, and bones are commonly affected.
Q3: Which gene is most commonly associated with Marfan syndrome?
Ans: The FBN1 gene, which provides instructions for making fibrillin-1.
Q4: What are common physical features of Marfan syndrome?
Ans: A tall, thin body and unusually long arms, legs, fingers, or toes are common features.
Q5: What is the most serious cardiovascular risk associated with Marfan syndrome?
Ans: Damage to the aorta is the most serious cardiovascular risk.
