Marfan syndrome

3-minute read

What is Marfan syndrome?

Marfan syndrome (also known as Marfan’s syndrome) is a disorder that affects the connective tissue that strengthens and stabilises the joints and muscles. It generally affects the limbs, but can also affect the skeleton, eyes, lungs, heart and nervous system. It is usually inherited from a parent with the condition. Marfan syndrome used to cut short people’s lives, but now people have a normal life expectancy

What are the symptoms of Marfan syndrome?

People with Marfan syndrome are often tall and slim, with longer than usual limbs, fingers and toes. They may have a long, thin face. Other signs include:

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 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 the heart to the body) and this will eventually need to be surgically repaired.

What causes Marfan syndrome?

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

Marfan syndrome is most often inherited from a parent, who will have a 1 in 2 chance of passing the condition on to their children.

However, in about 1 in 4 people diagnosed with Marfan syndrome, nobody else in the family is affected — the disease is due to a new mutation.

How is Marfan syndrome diagnosed?

Symptoms may allow a doctor to recognise Marfan syndrome during a physical examination, which may include x-rays of the joints, eye examinations and an echocardiogram to check the heart.

Gathering a complete family history and identifying other family members with Marfan syndrome can also help confirm the diagnosis.

Genetic testing may be performed to confirm the diagnosis. You can find a list of general genetics clinics on the NSW Health Centre for Genetics Education website.

How is Marfan syndrome treated?

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. You will also need to prevent unnecessary stress on the aorta.

Some people may need medicines 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.