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.