Symptoms of Marfan syndrome

Marfan's syndrome is a connective tissue disorder that strengthens and stabilizes the joints and muscles, usually affecting the extremities, but can also affect the skeleton, eyes, lungs, heart, and nervous system, transferred from one generation to another generation. Marfan's syndrome used to shorten people's lives, but now people have an actual life expectancy.

Symptoms

• Curved spine
• Vision problems
• Flat feet
• Chest that sticks out or is sunken
• Crowded teeth
• Headaches
• Pain in the back, legs or abdomen
• Loose joints

Some people with this syndrome may also have a few fitness problems, others may have coronary heart and blood vessel and eye problems. In many people with Marfan syndrome, the aorta (the large blood vessel that carries blood from the heart to the body) is affected and eventually needs to be surgically repaired.

Marfan's syndrome is caused by a genetic abnormality, specifically a change (mutation) in the gene that affects the elasticity of the tissues that hold muscles and joints together. Marfan syndrome is mostly inherited from a parent who has a 1 in 2 chance of passing the condition on to their children.

Treatment

Symptoms may allow a doctor to identify Marfan syndrome during a physical exam, which may include x-rays of the joints, eye exams, and an echocardiogram to monitor the heart. Taking a full family history and identifying other family members with Marfan syndrome can also help confirm the diagnosis. Genetic testing can be done to confirm the diagnosis. When you have Marfan Syndrome it is important to understand how it affects your body and to be aware of your physical limitations. You can help avoid putting unnecessary strain or strain on your joints by exercising caution during physical activity. You also need to avoid unnecessary stress on the aorta.

Some people may need medication to lower their blood pressure. Some people may need annual checkups to monitor their hearts. Sometimes people with Marfan syndrome need surgery to repair damaged heart valves, blood vessels, and joints.

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Regards
Alex John
Editorial Team
Gene Technology