Marfan Syndrome

Overview

Marfan syndrome is a genetic condition that affects the body's connective tissue — the "glue" that supports your heart, blood vessels, bones, joints, eyes, and skin. Because this tissue is weaker than normal, it can lead to health problems, especially in the aorta, the large artery that carries blood out of the heart.

Marfan syndrome is rare, affecting about 1 in every 5,000 people worldwide.

It affects males and females equally, and people of all backgrounds. Around 3 in 4 people inherit it from a parent. In others, it appears as a new genetic change with no family history.

Symptoms

Common symptoms

• Tall, slender build
• Long arms, legs, fingers, and toes
• Flexible joints (being double-jointed)
• Flat feet
• Chest bone that dips inward or sticks outward
• Curved spine (scoliosis)
• Crowded teeth
• Stretch marks on the skin not related to weight change
• Nearsightedness (myopia)
• Dislocation of the lens in the eye

Symptoms in children

• Children may be unusually tall and thin for their age.
• Chest wall abnormalities or a curved spine may develop.
• Flat feet and very flexible joints are common.
• Vision problems like nearsightedness or a dislocated lens can appear.
• But many children have some of these features without Marfan syndrome, so only a doctor can tell.

Symptoms in older adults

• Some older adults are diagnosed later in life after a routine exam or a related issue like joint pain or cataracts.
• They may have an enlarged aorta that was not noticed before.
• Aortic dissection (a tear in the body's main artery) can happen at any age, so regular check-ups are still important.

Causes

Main causes

• Marfan syndrome is caused by a change (mutation) in a gene called FBN1.
• This gene normally tells the body how to make a protein called fibrillin, which is important for connective tissue.
• When the gene is changed, connective tissue is weaker than it should be.
• A person needs only one changed copy of the gene to have the condition (called autosomal dominant inheritance).

Risk factors

• Having a parent with Marfan syndrome
• Having a family history of the condition
• There are no known lifestyle or environmental risk factors.

When to see a doctor

See a doctor urgently if:

• If you or your child has any of the emergency symptoms listed above, call your local emergency number right away.
• If you have a family history of Marfan syndrome and notice features like a tall, thin build, chest wall abnormality, or eye problems, see a doctor soon for evaluation.

Book a routine appointment if:

• If you are planning to have children and know you have Marfan syndrome, ask for a referral to a genetic counsellor.
• If you have ongoing joint pain, back pain, or vision changes that affect daily life, mention these to your doctor.
• If you are not sure whether you have risk factors, ask your doctor whether a check-up could be useful.

Diagnosis

A doctor will take a detailed medical and family history and perform a physical exam. They may refer you to a team of specialists including a cardiologist (heart specialist), ophthalmologist (eye specialist), and a geneticist. The diagnosis uses a set of internationally agreed criteria, called the Ghent criteria, which consider many parts of the body.

Tests that may be done

• Echocardiogram — an ultrasound of the heart to measure the aorta and check heart valves.
• Slit-lamp eye exam — to check for lens dislocation and other eye problems.
• Genetic testing — a blood test that looks for changes in the FBN1 gene.
• X-rays or scans of bones and joints if needed.

What to expect at your appointment

Diagnosis may take time because Marfan affects many systems. You may need several tests and visits with different specialists. Even if a diagnosis is not yet confirmed, you may be asked to start regular heart check-ups to be safe.

Treatment

There is no cure for Marfan syndrome, but treatment focuses on preventing and managing complications, especially of the heart and blood vessels. Regular monitoring is essential. Many people with Marfan syndrome lead active, healthy lives with proper care.

Self-care at home

• Attend all scheduled medical appointments, especially heart check-ups.
• Avoid very heavy lifting, contact sports, or any activity that involves extreme straining.
• Tell any doctor, dentist, or surgeon about your condition before any procedure.
• Wear sunglasses and have regular eye exams to protect your vision.

Medical treatments

Your doctor may prescribe medicines to help lower blood pressure and reduce stress on the aorta. These are often from a group called beta-blockers or medicines called angiotensin receptor blockers (ARBs). They do not cure Marfan syndrome, but they help slow enlargement of the aorta. You must take them exactly as prescribed and talk to your doctor about any side effects.

When is surgery considered?

Surgery on the aorta may be recommended if it becomes too wide or grows quickly. This is a major but common procedure: the weakened part of the aorta is replaced with a synthetic tube. The decision is made by a specialist team based on your size, age, and rate of growth.

Living with this condition

Living with Marfan syndrome means paying attention to your body and following your care plan. Most people can work, study, and enjoy hobbies with a few sensible limits. Learn your condition well and keep a list of your medications and specialist appointments.

Lifestyle tips

• Avoid smoking and recreational drugs that can strain the heart.
• Wear a medical alert bracelet or carry a card that says you have Marfan syndrome.
• Tell coaches, teachers, or employers about activities you should avoid.
• Focus on staying active in safe ways, and rest when you need to.

Diet and exercise

Exercise is encouraged, but it must be safe. Low-impact activities like walking, swimming, cycling, and yoga are generally good. High-intensity competitive sports, heavy weightlifting, or activities with sudden stops and starts can put dangerous stress on the aorta and joints. Always ask your doctor which activities are recommended for you.

Mental health and emotional wellbeing

It is normal to feel anxious or worried when living with a condition that affects your heart. Talking to a mental health professional, joining a support group, or sharing concerns with family can help. Remember that with proper care, most people with Marfan syndrome live a normal lifespan.

Prevention

Marfan syndrome is due to a gene change and cannot be prevented. If you have a family history and are planning a pregnancy, a genetic counsellor can explain your options and chances of passing it on.

Vaccines

Stay up to date with routine vaccines, including the flu vaccine and COVID-19 vaccine, to help protect your heart from infections.

Screening programmes

If you have a family history of Marfan syndrome, you may be offered regular screening with an echocardiogram, eye exam, and sometimes genetic testing. Even if you have no symptoms, screening is important because problems can develop without warning.

Complications

If left untreated

• The most serious risk is aortic dissection or rupture — a medical emergency that can be fatal.
• Enlargement of the aorta often happens without symptoms until a problem occurs.
• Severe scoliosis or chest wall deformities may cause breathing or movement issues.
• Eye problems such as lens dislocation, cataracts, or glaucoma can lead to vision loss if not treated.

Long-term outlook

The outlook for people with Marfan syndrome has improved dramatically. With early diagnosis, regular monitoring, and modern treatments including surgery, many people live long and active lives. It is natural to feel concerned, but you are not alone — your healthcare team will support you at every step.

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