17209 Marfan Syndrome

Overview

Marfan syndrome is a genetic condition that affects your body's connective tissue — the tissue that helps hold your cells, organs, and body parts together. It can affect your heart, blood vessels, bones, eyes, and lungs. With proper care, most people with Marfan syndrome lead full lives.

Marfan syndrome is rare. It affects about 1 in 5,000 people worldwide.

It affects people of all genders and ethnic backgrounds. It can appear in children, teenagers, and adults, and it may be diagnosed at any age.

Symptoms

Common symptoms

• Tall, slender body build
• Long arms, legs, fingers, and toes
• Flexible joints and flat feet
• A chest that sinks in (pectus excavatum) or sticks out (pectus carinatum)
• Curved spine (scoliosis)
• Nearsightedness (myopia)
• Heart valve problems or an enlarged aorta

Symptoms in children

• Children with Marfan syndrome may grow faster than their peers and have long limbs and fingers.
• They might have a curved spine, a chest shape that is different from usual, or flat feet.
• Some children have eye problems such as nearsightedness or a displaced lens in the eye.

Symptoms in older adults

• In older adults, the condition may have been present for years, but heart valve issues or enlargement of the aorta can become more noticeable with age.
• Aging can make joint pain, back pain, or eye problems more obvious.
• Regular monitoring is important because complications can be treated even if they were not caught earlier in life.

Causes

Main causes

• Marfan syndrome is caused by a change in the FBN1 gene. This gene gives instructions to make a protein called fibrillin-1, which is important for elastic fibers in connective tissue. When the gene is altered, connective tissue becomes weaker throughout the body.

Risk factors

• The main risk factor is having a parent with Marfan syndrome. Each child of a parent with the condition has a 50% chance of inheriting the changed gene.
• In about 1 in 4 cases, Marfan syndrome is new in the family — neither parent has the condition.

When to see a doctor

See a doctor urgently if:

• If you have known Marfan syndrome and develop new or worsening symptoms like a racing heartbeat, dizziness, or unusual fatigue, seek medical advice the same day.
• If you are pregnant and have Marfan syndrome, you need urgent review because pregnancy puts extra strain on the heart and aorta.

Book a routine appointment if:

• If you or your child have several features of Marfan syndrome (tall stature, long limbs, eye or chest problems), make a routine appointment with your GP.
• If you have a family history of Marfan syndrome and have never been checked, talk to your doctor about being assessed.

Diagnosis

Doctors diagnose Marfan syndrome by looking at your medical and family history, doing a physical exam, and using internationally agreed criteria called the Ghent criteria. A clinical geneticist may be involved. There is no single test that confirms the condition, but a combination of features and test results helps the doctor make a diagnosis.

Tests that may be done

• Echocardiogram (an ultrasound of the heart) to check the size of the aorta and heart valves
• Eye exam, including a slit-lamp test, to look for lens problems
• MRI or CT scan of the chest to measure the aorta more precisely
• Genetic test to look for a change in the FBN1 gene (may take several weeks for results)

What to expect at your appointment

If Marfan syndrome is suspected, you’ll likely be referred to a team of specialists, including a cardiologist, an ophthalmologist, and a genetic counsellor. The assessment may take a few appointments, and the team will work together to plan your care.

Treatment

There is no cure for Marfan syndrome, but regular monitoring and treatment can greatly reduce the risk of complications. Treatment focuses on protecting the heart and aorta, managing symptoms, and helping you live as normally as possible.

Self-care at home

• Attend all scheduled check-ups and scans
• Avoid intense physical exertion and contact sports unless your doctor says it’s safe
• Control your blood pressure by eating a healthy, low-salt diet and staying at a healthy weight
• Do not smoke and avoid secondhand smoke
• Tell all your healthcare providers – including your dentist – that you have Marfan syndrome

Medical treatments

Doctors may prescribe medicines that lower blood pressure or reduce the stress on the aorta. These medicines help protect your main artery from becoming too wide or tearing. You may also need regular imaging (like echocardiograms) to measure your aorta. In some cases, surgery is needed to repair or replace part of the aorta or a heart valve.

When is surgery considered?

Surgery is usually considered when the aorta becomes enlarged to a size that puts you at risk of tearing (dissection). The surgeon may replace part of the aorta or repair a heart valve. The exact timing depends on your age, sex, family history, and how quickly the aorta is growing.

Living with this condition

Living with Marfan syndrome means staying in close contact with your healthcare team and being aware of symptoms that need attention. Many people manage well and lead full, productive lives.

Lifestyle tips

• Avoid smoking and secondhand smoke, as smoking can weaken blood vessels
• Limit alcohol, because alcohol can raise blood pressure
• Avoid heavy lifting and extreme sports; choose low-impact activities like walking, swimming, or cycling with your doctor’s approval
• Take rest breaks during physical activity and stay well-hydrated
• If you are pregnant or considering pregnancy, talk to a high-risk pregnancy clinic because pregnancy puts extra strain on the aorta

Diet and exercise

A balanced diet low in salt and processed foods helps keep blood pressure healthy. Exercise is beneficial, but you should stick to low- or moderate-intensity activities that don’t involve straining. Gentle swimming, walking, and cycling are often good choices. Your doctor or physiotherapist can suggest safe options, and your cardiologist can tell you which activities to avoid.

Mental health and emotional wellbeing

Marfan syndrome can affect self-esteem because of physical features, and living with a long-term condition can bring anxiety or low mood. It’s important to talk about your feelings with your GP, who can direct you to counselling or support groups. If you are in crisis or have thoughts of harming yourself, contact your local emergency number or crisis line immediately.

Prevention

Marfan syndrome is a genetic condition and cannot be prevented. However, the serious complications of Marfan syndrome can often be prevented or delayed with early diagnosis, regular monitoring, and treatment.

Vaccines

Keep up to date with recommended vaccinations, including the annual flu shot, because heart and lung problems may make you more vulnerable to infections. Ask your doctor which vaccines are right for you.

Screening programmes

If you have a family history of Marfan syndrome, genetic counselling and testing can help identify whether you or your children are at risk. Children who have a parent with the condition should be checked regularly from a young age.

Complications

If left untreated

• Aortic dissection or rupture – a tear or break in the main artery, which is life-threatening
• Heart valve problems that can lead to heart failure
• Severe eye problems, including detached retina, lens dislocation, and glaucoma
• Bone problems such as severe scoliosis that may affect breathing, and flat feet that cause pain

Long-term outlook

With proper medical care, most people with Marfan syndrome have a normal lifespan and can work, have a family, and enjoy hobbies. The key is to follow your healthcare plan, attend your monitoring appointments, and report any new symptoms to your doctor promptly. Advances in care have greatly improved the outlook for people with Marfan syndrome.

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