Marfan syndrome causes

Marfan syndrome is caused by a gene abnormality, specifically a change (mutation) in the gene that affects the elasticity of connective tissue in muscles and joints.

Marfan syndrome is most often inherited from a parent, who will have a 50% chance of passing the condition on to their children.

However, in about one quarter of people diagnosed with Marfan syndrome, nobody else in the family is affected – the disease is due to a new mutation.

Marfan syndrome symptoms

People with Marfan syndrome are often tall and slim, with longer than usual limbs, fingers and toes. They may have long, thin fingers. Some people with Marfan syndrome have few health problems, while others are seriously affected by troubles with their heart and blood vessels, as well as their eyes. In many people with Marfan syndrome, the aorta is affected (the large blood vessel that carries blood from your heart to your body) and this will eventually need to be surgically repaired.

Marfan syndrome diagnosis

Symptoms may allow a doctor to recognise Marfan syndrome during a physical examination, which may include X-rays of the joints.

Gathering a complete family history and identifying other family members with Marfan syndrome can also help confirm the diagnosis. However, if a new mutation is suspected, a genetic test may be performed to confirm the diagnosis.

Marfan syndrome treatments

If 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 prevent unnecessary stress or strain on joints by taking care during physical activity.

Some people may need medications to lower blood pressure. Some people may need annual check-ups to monitor the heart. At times, people with Marfan syndrome may need surgery to repair damaged heart valves, blood vessels and joints.

More information

Information and support for people with Marfan syndrome can be found at Marfan Association Victoria.