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Marfan Syndrome: Understanding the Risks of a Genetic Disorder
Overview
Marfan Syndrome is a genetic disorder affecting connective tissue, particularly in the heart, eyes, blood vessels, and bones. People with Marfan tend to be tall and thin with long limbs and flexible joints. The biggest risk is aortic aneurysm, which can be life-threatening.
Causes
Marfan Syndrome is caused by mutations in the FBN1 gene, which affects fibrillin, a protein crucial for connective tissue strength. It is usually inherited in an autosomal dominant pattern, meaning an affected parent has a 50% chance of passing it to their child.
Symptoms
Tall stature with long arms, legs, and fingers
Curved spine (scoliosis) and chest deformities
Hypermobile joints and flat feet
Vision problems due to lens dislocation
Heart complications, particularly aortic enlargement (risk of rupture)
Diagnosis
Doctors diagnose Marfan Syndrome using the Ghent Criteria, which evaluates skeletal, cardiovascular, and ocular symptoms. Genetic testing can confirm the diagnosis.
Treatment
There is no cure, but treatment focuses on preventing complications:
Heart monitoring with echocardiograms to check for aortic enlargement
Beta-blockers or ARBs to reduce stress on the aorta
Surgery for severe aortic dilation
Bracing or surgery for scoliosis and chest deformities
Glasses or surgery for vision problems
Living with Marfan Syndrome
People with Marfan should avoid high-impact activities and heavy lifting to reduce stress on the heart. Regular medical check-ups and early intervention can significantly improve life expectancy.
Overview
Marfan Syndrome is a genetic disorder affecting connective tissue, particularly in the heart, eyes, blood vessels, and bones. People with Marfan tend to be tall and thin with long limbs and flexible joints. The biggest risk is aortic aneurysm, which can be life-threatening.
Causes
Marfan Syndrome is caused by mutations in the FBN1 gene, which affects fibrillin, a protein crucial for connective tissue strength. It is usually inherited in an autosomal dominant pattern, meaning an affected parent has a 50% chance of passing it to their child.
Symptoms
Tall stature with long arms, legs, and fingers
Curved spine (scoliosis) and chest deformities
Hypermobile joints and flat feet
Vision problems due to lens dislocation
Heart complications, particularly aortic enlargement (risk of rupture)
Diagnosis
Doctors diagnose Marfan Syndrome using the Ghent Criteria, which evaluates skeletal, cardiovascular, and ocular symptoms. Genetic testing can confirm the diagnosis.
Treatment
There is no cure, but treatment focuses on preventing complications:
Heart monitoring with echocardiograms to check for aortic enlargement
Beta-blockers or ARBs to reduce stress on the aorta
Surgery for severe aortic dilation
Bracing or surgery for scoliosis and chest deformities
Glasses or surgery for vision problems
Living with Marfan Syndrome
People with Marfan should avoid high-impact activities and heavy lifting to reduce stress on the heart. Regular medical check-ups and early intervention can significantly improve life expectancy.
Marfan Syndrome: Understanding the Risks of a Genetic Disorder
Overview
Marfan Syndrome is a genetic disorder affecting connective tissue, particularly in the heart, eyes, blood vessels, and bones. People with Marfan tend to be tall and thin with long limbs and flexible joints. The biggest risk is aortic aneurysm, which can be life-threatening.
Causes
Marfan Syndrome is caused by mutations in the FBN1 gene, which affects fibrillin, a protein crucial for connective tissue strength. It is usually inherited in an autosomal dominant pattern, meaning an affected parent has a 50% chance of passing it to their child.
Symptoms
Tall stature with long arms, legs, and fingers
Curved spine (scoliosis) and chest deformities
Hypermobile joints and flat feet
Vision problems due to lens dislocation
Heart complications, particularly aortic enlargement (risk of rupture)
Diagnosis
Doctors diagnose Marfan Syndrome using the Ghent Criteria, which evaluates skeletal, cardiovascular, and ocular symptoms. Genetic testing can confirm the diagnosis.
Treatment
There is no cure, but treatment focuses on preventing complications:
Heart monitoring with echocardiograms to check for aortic enlargement
Beta-blockers or ARBs to reduce stress on the aorta
Surgery for severe aortic dilation
Bracing or surgery for scoliosis and chest deformities
Glasses or surgery for vision problems
Living with Marfan Syndrome
People with Marfan should avoid high-impact activities and heavy lifting to reduce stress on the heart. Regular medical check-ups and early intervention can significantly improve life expectancy.
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