What is Marfan syndrome?

Marfan syndrome (also known as Marfan’s syndrome) is a genetic condition that causes a loss of elastic tissue. This tissue maintains the structure of your body. It also supports your internal organs.

Marfan syndrome can affect both males and females. It affects many body systems, including your:

• musculoskeletal system (bones, muscles and ligaments)
• cardiovascular system (heart and blood vessels)
• neurological system (brain, spinal cord and nerves)
• respiratory system (lungs)

Marfan syndrome is usually inherited from a parent with the condition. People with Marfan syndrome have about the same life expectancy as the general population.

What are the symptoms of Marfan syndrome?

People with Marfan syndrome are often tall and have long arms.

Other signs can include:

• scoliosis (curved spine)
• glaucoma and retinal detachment (vision problems)
• flat feet
• striae (stretch marks)
• hernias
• heart murmur
• breathlessness

Marfan syndrome is often diagnosed in later childhood and the teenage years. This is because many of the signs and symptoms of Marfan syndrome do not appear in early childhood.

Many people with Marfan syndrome have problems with their aorta. The aorta is the large blood vessel that carries blood from your heart to your body. This will eventually need to be surgically repaired.

Some people with Marfan syndrome have very few health problems. Others have serious problems with their heart, blood vessels and eyes.

What causes Marfan syndrome?

Marfan syndrome is caused by a mutation (change) in the fibrillin-1 gene (FBN1). This causes parts of your body to stretch too much when placed under stress. It also causes some bones to grow longer than they should.

In about 3 out of 4 cases, Marfan syndrome is inherited from a parent. It’s an autosomal dominant condition — that means that a child can inherit the syndrome even if only one parent has the gene.

However, for about 1 in 4 people diagnosed with Marfan syndrome, nobody else in their family is affected. In these cases, the disease is due to a new gene mutation (gene change).

When should I see my doctor?

If you think you may have Marfan syndrome, you should see your doctor.

How is Marfan syndrome diagnosed?

Your doctor will examine you and ask you about your symptoms. They will also speak with you about your family history. This is to find out if you have other family members with Marfan syndrome.

Your doctor may also arrange tests, which can include:

• an echocardiogram to check your heart
• a CT scan of your chest
• eye tests
• an ultrasound of your abdomen (tummy)

Genetic testing may be used to confirm your diagnosis.

Children and young people may not meet all the criteria for a diagnosis of Marfan syndrome. They are described as having 'potential' Marfan. This is based on their clinical features and a family history of Marfan syndrome.

How is Marfan syndrome treated?

Unfortunately, Marfan syndrome can’t be cured.

You may need treatment to manage the symptoms of Marfan syndrome.

You may need treatment with medicines to help prevent heart complications. This may be with a beta-blocker medicine or a medicine known as an ‘angiotensin-II receptor antagonist’.

You should have regular check-ups with a cardiologist (heart doctor).

People with Marfan syndrome may need surgery to repair damaged:

• heart valves
• blood vessels
• joints

Living with Marfan Syndrome

If you have Marfan syndrome, it’s important 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 regular check-ups from a range of doctors including:

• a geneticist
• a cardiologist
• an ophthalmologist (eye doctor)
• an orthopaedic surgeon (a doctor who treats muscle, joint and bone conditions)
• a paediatrician (children’s doctor — if you’re aged under 16 years)

Can Marfan syndrome be prevented?

Marfan syndrome is a genetic disease, so can't be prevented. The condition often runs in families.

Complications of Marfan syndrome

Marfan syndrome can cause aortic dissection (a tear in your aorta). This requires immediate surgical repair.

The risk of aortic dissection or rupture increases with the size of the aorta and also with pregnancy. This should be managed by a cardiologist (specialist heart doctor).

If you have Marfan syndrome there is a 50% chance that you will pass this on to your baby. It’s a good idea to talk with a genetic counsellor when you start thinking about having a baby.

Resources and support

Connective Tissue Disorders Network Australia (CTDNA) has resources available for people with Marfan syndrome.

For more information and support, you can contact Genetic Alliance Australia.

You can also call the healthdirect helpline on 1800 022 222 (known as NURSE-ON-CALL in Victoria). A registered nurse is available to speak with 24 hours a day, 7 days a week.