Online Shopping Customer Service 0300 3033380*
Home
Marfan syndrome

Shopping Cart

Health Advice
Main Menu
Newsletter

Name:

Email:

Marfan syndrome Content Supplied by NHS Choices
Introduction

Marfan syndrome is a disorder of the body's connective tissues - a group of tissues that maintain the structure of the body and support internal organs and other tissues.

Children usually inherit the disorder from one of their parents.

Some people are only mildly affected by Marfan syndrome, while others develop more serious symptoms.

Typical characteristics of Marfan syndrome include:

  • being tall
  • abnormally long and slender limbs, fingers, and toes (arachnodactyly, see photo)
  • heart defects
  • lens dislocation - where the lens of the eye falls into an abnormal position

Read more about the symptoms of Marfan syndrome.

What causes Marfan syndrome

Marfan syndrome is hereditary, which means it can be passed to a child from a parent who's affected.

In around three-quarters (75%) of cases, Marfan syndrome is inherited from one parent. The syndrome is autosomal dominant, which means a child can inherit it even if only one parent has the syndrome.

There's therefore a one in two (50%) chance that the child of a parent with Marfan syndrome will inherit the syndrome.

The gene defect leads to abnormal production of a protein called fibrillin, resulting in parts of the body being able to stretch abnormally when placed under any kind of stress.

The defective fibrillin gene also causes some bones to grow longer than they should. This means a person with Marfan syndrome may be tall because their arms and legs grow longer than normal.

In the remaining quarter (25%) of cases, neither parent has the syndrome. In these cases, the fibrillin gene changes (mutates) for the first time in the parent's egg or sperm. The mutated gene can be passed on to the child, who will then go on to develop the syndrome.

Read more about genetic inheritance.

Diagnosing Marfan syndrome

Diagnosing Marfan syndrome can be difficult as the symptoms can vary significantly from person to person.

As the symptoms of Marfan syndrome don't always develop during childhood, it may not be identified until the teenage years.

In 99% of cases, a genetic test can be used to confirm a diagnosis of Marfan syndrome. However, it's an expensive process as the gene can mutate in more than 3,000 different ways.

In most cases, a diagnosis of Marfan syndrome is based on a thorough physical examination and a detailed assessment of a person's medical and family history.

Read more about how Marfan syndrome is diagnosed.

Treating Marfan syndrome

There's no cure for Marfan syndrome, so treatment focuses on managing the symptoms and reducing the risk of complications.

As Marfan syndrome affects several different parts of the body, you'll be treated by a team of different healthcare professionals. You'll be closely monitored, and any complications will be treated if they occur.

One of the most serious problems caused by Marfan syndrome occur if the heart and the aorta, the body's main artery, are significantly affected. This can lead to a lower life expectancy.

Read more about the possible treatments for Marfan syndrome.

Information about you

If you or your child has Marfan syndrome, your clinical team will pass information about you/them on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS).

This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time.

Find out more about the register.


Symptoms of Marfan syndrome

Marfan syndrome can affect many parts of the body, including the skeleton, eyes, and heart and blood vessels (cardiovascular system).

The severity of the symptoms varies widely. Some people experience a few mild symptoms, whereas others - about 1 in 10 - experience more severe symptoms.

The symptoms of Marfan syndrome tend to get more severe as a person gets older.

Skeleton

Someone with Marfan syndrome may have several distinct physical characteristics. They may be:

  • tall and slim, with long, thin arms and legs
  • have loose and very flexible joints

If your child is particularly slim or tall for their age, it doesn't necessarily mean they have Marfan syndrome. It's a rare syndrome, and your child will usually have a number of other symptoms if they have it.

Other physical characteristics of Marfan syndrome can include:

  • a small lower jaw
  • a high, arched palate (roof of the mouth)
  • deep-set eyes
  • flat feet
  • a breastbone (sternum) that either protrudes outwards or indents inwards
  • crowded teeth

Scoliosis

Marfan syndrome can cause the spine to become abnormally curved to the sides. This is known as scoliosis.

Curvature of the spine can cause long-term backache. In severe cases, it can also make breathing difficult as the spine may press against the heart and lungs.

Spondylolisthesis

Spondylolisthesis is where one of the bones in your spine (a vertebra) slips forward over another vertebra.

This usually occurs in the lower spine, and can cause back pain and stiffness. Anyone can develop spondylolisthesis, but it more commonly affects people with Marfan syndrome.

Dural ectasia

The dura is the membrane that lines your brain and spinal cord. Dural ectasia is a condition where the dura becomes weakened and expands outwards.

People with Marfan syndrome are at particular risk of developing dural ectasia. As the membrane expands, it can press on the vertebrae in your lower back, which can cause:

  • backache
  • headache
  • numbness or pain in your legs

Eyes

Many people with Marfan syndrome have some type of vision problem.

Lens dislocation affects half of all people with the syndrome. This is where the eye's lens, the transparent structure that sits behind the pupil and focuses light, falls into an abnormal position.

Other possible eye-related symptoms of Marfan syndrome include:

  • myopia - short-sightedness
  • glaucoma - increased pressure in the eyeball which, left untreated, can cause permanent vision loss
  • cataracts - where cloudy patches develop in the eye's lens, causing blurred or misty vision
  • retinal detachment - where the light-sensitive layer of cells at the back of your eye (retina) begins to pull away from the blood vessels that supply it with oxygen and nutrients

Cardiovascular system

Marfan syndrome can affect the cardiovascular system, which is made up of your heart and blood vessels. It's particularly serious if your aorta and heart valves are affected.

Aorta

The aorta is the main artery in the body. It runs from your heart, down the centre of your chest, and through your abdomen.

In people with Marfan syndrome, the walls of the aorta are weak. This can sometimes cause the aorta to enlarge and balloon, which is known as an aortic aneurysm.

In severe cases, the aorta can split (rupture), causing potentially fatal internal bleeding.

Valves

Your heart has four chambers that pump blood to and from the rest of the body. To control the flow of blood through your heart's chambers, your heart has four valves:

  • mitral valve
  • aortic valve
  • tricuspid valve
  • pulmonary valve

These valves act as one-way gates, allowing blood to flow through in one direction. In some people with Marfan syndrome, the mitral or tricuspid valves don't close properly and blood leaks back through the valve.

Read more about common mitral valve problems.

The aortic valve may also leak, leading to the main pumping chamber (left ventricle) gradually becoming enlarged.

Monitoring

If your GP thinks you may have Marfan syndrome, you'll be referred to a specialist for testing. Your heart and blood vessels will be examined for the symptoms of the syndrome.

Read more about diagnosing Marfan syndrome.

Stretch marks

Stretch marks are pink, red, or white streaks in the skin. They can appear when you gain or lose weight quickly, when you have a growth spurt during childhood, or during pregnancy.

People with Marfan syndrome often develop stretch marks because the tissue in their skin is weakened and the skin isn't as elastic as it should be.

If you have Marfan syndrome, stretch marks are most likely to appear on your:

  • shoulders
  • hips
  • lower back

Over time, they'll gradually fade to a silvery colour and will be difficult to see.


Diagnosing Marfan syndrome

Marfan syndrome can be difficult to diagnose because the signs and symptoms can vary from person to person.

In most cases, a diagnosis will be based on a thorough physical examination and a detailed assessment of a person's medical and family history.

There are a number of criteria that your GP or geneticist - a gene specialist - will measure your symptoms against.

Physical examination

Your doctor will carry out a physical examination, which should include:

  • listening to your heart
  • checking your skin for stretch marks
  • looking for any physical features of the syndrome, such as a high palate, curvature of the spine, and long, thin arms and legs

As well as the varied signs and symptoms of Marfan syndrome, it can sometimes be difficult to distinguish the syndrome from other syndromes that affect the body's connective tissue, such as Ehlers-Danlos syndrome or Beals syndrome.

The Marfan Foundation (USA) has more infomation about disorders related to Marfan syndrome.

Medical history

As well as carrying out a physical examination, your GP will have a detailed look at your:

  • medical history - to find out whether you've had any symptoms or illnesses in the past that may be a sign of Marfan syndrome
  • family history - if you have a close family member with Marfan syndrome, your chances of also having the syndrome are increased

Children

Marfan syndrome can be particularly difficult to diagnose in children, and it's rare for it to be diagnosed in a young child.

This is because most of the signs and symptoms don't usually appear until later childhood and the teenage years.

If Marfan syndrome is suspected, your child will be carefully monitored so any developing symptoms can be detected and treated as soon as possible.

Ghent criteria

Your GP may compare the signs and symptoms against the Ghent criteria. This is a diagnostic tool that helps GPs and other healthcare professionals tell the difference between Marfan syndrome and other similar syndromes.

The Ghent criteria consists of major and minor criteria. The major criteria are features or symptoms common in people with Marfan syndrome that are rare in people who don't have it.

Minor criteria are features or symptoms present in people with Marfan syndrome, but are also present in people who don't have it.

To be diagnosed with Marfan syndrome using the Ghent criteria, you must have a number of different symptoms.

If you have a family history of Marfan syndrome, you'll need to have one of the major criteria and one of the minor criteria.

If you don't have a family history of Marfan syndrome, you'll need to have two major criteria and one of the minor criteria.

Some of the major and minor criteria used to help diagnose Marfan syndrome are listed below.

Major criteria

Major criteria can include:

  • an enlarged aorta
  • a tear in the aorta
  • dislocation of the lens of the eye
  • a family history of the syndrome
  • at least four skeletal problems, such as flat feet or curved spine (scoliosis)
  • enlargement of the lining that surrounds part of the spinal cord (dural ectasia)

Minor criteria

Minor criteria can include:

Further testing

Your GP may arrange for you to have some additional tests at a hospital or clinic. This will help detect any potentially serious symptoms, such as an enlarged aorta.

Some of the tests you may have include:

  • an eye examination - this is carried out by a doctor who specialises in eye conditions (ophthalmologist) to check for dislocation of the lens
  • an echocardiogram - where sound waves are used to produce an image of your heart, allowing doctors to check for heart problems and any problems with your aorta
  • a chest X-ray - an imaging technique that uses high-energy radiation to highlight abnormalities in bones and certain organs of the body, such as the heart and lungs
  • a magnetic resonance imaging (MRI) scan - uses a strong magnetic field and radio waves to produce a detailed image of the inside of your body; it can be used to examine your aorta and other blood vessels, and detect dural ectasia

Genetic testing

Although the gene that causes Marfan syndrome has been identified, it can change (mutate) in more than 3,000 different ways. Genes are single units of genetic material.

A genetic test can be used to examine the gene responsible for Marfan syndrome. It's able to detect an error that causes the syndrome in 99% of those affected. However, the test is expensive and takes three months to complete.

In most cases, a diagnosis of Marfan syndrome will be made from the physical features and symptoms of the syndrome.

Read more about genetic testing and counselling.

Prenatal testing

Once a gene mutation for Marfan syndrome has been found, and you're going to become a parent, you may want to have your unborn baby tested to find out whether they also have the syndrome.

There's a one in two (50%) chance of the baby inheriting the syndrome.

To do this, two possible tests can be used - chorionic villus sampling (CVS) or amniocentesis.

Chorionic villus sampling

Prenatal testing for Marfan syndrome can be carried out approximately 10 to 12 weeks into the pregnancy using chorionic villus sampling (CVS).

CVS involves taking a small sample of cells from the organ that links the mother's blood supply with her unborn baby's (the placenta) through the entrance of the womb. The sample can then be tested for genetic conditions.

Amniocentesis

Amniocentesis can also be used to test for Marfan syndrome. The test is carried out about 16 to 18 weeks into the pregnancy and involves taking a small sample of amniotic fluid for examination. Amniotic fluid surrounds the unborn baby in the womb.

Caution

Although prenatal tests may show whether your child has the defective gene that causes Marfan syndrome, the tests won't give any indication as to how serious their symptoms will be. Generally, the baby will be affected to the same extent as other people in their family.

The severity of Marfan syndrome in the parent is an indication of how severe it will be in the child. Your child may only experience very mild symptoms, despite having the genetic mutation. This is because the expression of the gene can vary, even within the same family.

In some cases, the results of CVS or amniocentesis could be negative, suggesting that your child doesn't have the defective gene. However, your child may have a different genetic mutation that wasn't tested for, but could still cause Marfan syndrome.

Preimplantation genetic diagnosis

Preimplantation genetic diagnosis (PGD) is a technique where eggs and sperm are harvested from the parents so embryos can be created in a laboratory.

Only unaffected embryos are available for implantation in the womb. The process takes about 12 months.

PGD is only an option after a person with Marfan syndrome has been identified as having a Marfan gene mutation and wants to become a parent. The NHS will fund a couple to have one unaffected child by PGD.


Treating Marfan syndrome

There's currently no cure for Marfan syndrome. Treatment focuses on managing the symptoms and reducing the risk of complications.

As Marfan syndrome affects several different parts of the body, your treatment programme will involve a number of healthcare professionals, who may include:

  • a geneticist - a specialist in genetic disorders
  • a genetic counsellor - who provides information, emotional support and guidance to people who've been diagnosed with a genetic condition
  • a cardiologist - a specialist in heart conditions
  • an ophthalmologist - a specialist in conditions that affect the eyes
  • an orthopaedic surgeon - a surgeon who specialises in treating conditions that affect the muscles, joints and bones
  • a paediatrician - a specialist in treating babies and children up to the age of 16

You'll usually be assigned a doctor to co-ordinate your treatment programme and ensure every aspect of the syndrome is closely monitored and, if necessary, treated.

Skeletal problems

Skeletal problems that develop as a result of Marfan syndrome can sometimes cause significant pain and discomfort.

They may also affect your appearance, which some people find affects their confidence and self-esteem.

There are a number of ways skeletal symptoms can be treated. Some of these are outlined below.

Loose, painful joints

Seventy per cent of people with Marfan syndrome have pain in and around their joints. Good posture, exercises, and the use of joint supports, as well as pain relief, such as paracetamol and non-steroidal anti-inflammatory drugs (NSAIDs), can prove helpful.

Scoliosis

Treatment for curvature of the spine (scoliosis) will depend on how severely your spine is curved. If your spine is mildly curved, your treatment team will closely monitor it to see whether it gets worse.

In some cases, particularly in children who are still growing, a back brace may be recommended. The brace won't cure scoliosis, but it may stop it getting worse.

A back brace usually needs to be worn for 23 hours a day, and is only removed for baths, showers, swimming, and contact sports. Some children find wearing a back brace difficult at first, but it needs to be worn for the correct amount of time to be effective.

Surgery will usually be needed to straighten your spine if it curves by 40 degrees or more. Straightening the spine will help alleviate problems such as restricted breathing and back pain.

A number of different types of surgery can be used to treat scoliosis. The type recommended will depend on your age and individual circumstances.

In young children - generally those under the age of 10 - growing rods are inserted, which allow for continued growth while partially correcting the curvature of the spine.

In teenagers and young adults, an operation called spinal fusion may be carried out. This is where the spine is straightened using metal rods that are attached with screws, hooks, and wires. Bone grafts are used to fuse the spine in place.

Read more about scoliosis surgery in children, teenagers, and young adults.

Surgery for adults with scoliosis is usually only recommended if the spinal curvature is severe, getting significantly worse, or the nerves in the spine are being compressed.

The two main types of surgery used are decompression surgery, where the disc or bone pressing on a nerve is removed, and spinal fusion surgery.

These are major operations that can take a year or more to fully recover from. They also carry a risk of potentially serious complications, such as infection, blood clots, and, in rare cases, nerve damage.

Read more about scoliosis surgery in adults.

Convex and concave chest

Marfan syndrome can sometimes affect the natural position of the chest. Your chest is concave if it caves inwards, and convex if it protrudes outwards.

In rare cases, a person's chest can be severely concave and press against their lungs, affecting breathing. Surgery will usually be required to help ease the pressure on the lungs.

Surgery for a concave chest involves raising the breastbone (sternum) and ribs, and fixing them in place with a metal bar. Once the breastbone and ribs are fixed in position, the bar will be removed.

A convex chest shouldn't cause any health problems and won't usually require treatment. However, some people with a convex chest choose to have treatment for cosmetic reasons.

Physiotherapy

Physiotherapy uses physical methods such as exercise, massage, and manipulation to promote healing and wellbeing. It can help improve your range of movement and strengthen muscle support.

If skeletal problems are making it difficult for you to get around, physiotherapy may help make moving easier and more comfortable.

Heart problems

Marfan syndrome can cause serious heart problems, which can be fatal. It's therefore important that your heart is treated as a priority.

You'll need to have regular check-ups with a cardiologist, who will be able to monitor your heart. This may mean having a yearly echocardiogram, where an ultrasound scan produces an image of your heart.

An echocardiogram can identify the structure, thickness, and movement of the aorta and each heart valve, enabling any potential heart-related complications to be detected and treated as soon as possible.

Some of the possible treatment options for the heart are described below.

Beta-blockers

People with Marfan syndrome are often prescribed a type of medicine called beta-blockers to help prevent damage to their heart. Beta-blockers are used to treat high blood pressure (hypertension).

However, most people with Marfan syndrome have low blood pressure (hypotension). In this case, beta-blockers help slow down your heart rate and decrease the strength of your heartbeat, which in turn helps to slow down any enlargement of the aorta.

If you can't take beta-blockers, other similar medicines such as losartan or irbesartan may be recommended.

Surgery

If your cardiologist feels it's necessary, you may need to have heart surgery to reduce your risk of developing life-threatening complications.

The most common type of heart surgery carried out on people with Marfan syndrome is an operation to replace a section of an enlarged aorta. This operation must be carried out before the aorta becomes too big.

You'll have an echocardiogram every year to monitor the diameter of the aorta. Surgery will be considered when it measures between 4.5cm and 4.8cm (about 1.8-1.9 inches).

If your aorta is severely enlarged, the risk of it tearing or splitting (rupturing) during the operation will be too high for the benefits to outweigh the risks. Emergency surgery will be needed if your aorta ruptures or tears.

Eye problems

If you've been diagnosed with Marfan syndrome, you may be referred to an ophthalmologist, who will assess your eyes and vision.

You may also need to have an annual check-up to help identify any new developments. Eye problems associated with Marfan syndrome are potentially serious and may lead to a permanent loss of vision.

Some of the treatment options for eye problems are outlined below.

Cataracts

If you develop cataracts as a result of Marfan syndrome, you may need surgery to replace the clouded lens with an artificial one.

Cataract surgery is usually performed as keyhole surgery, through a very small cut, under local anaesthetic.

Glaucoma

People with Marfan syndrome have a higher risk of developing glaucoma, a condition caused by increased pressure in the eyeball.

Once glaucoma has caused vision loss, it can't be cured. Your eyes will therefore be carefully monitored to detect any signs of the condition.

Although glaucoma can't be cured, it's usually possible to prevent it getting worse. Treatment options include eye drops, laser treatment, or surgery.

Read more about how glaucoma is treated.

Glasses and contact lenses

If you're short-sighted, your vision can usually be corrected using glasses or contact lenses.

If the transparent structure at the front of your eye (the lens) is dislocated, specially designed glasses or contact lenses can sometimes be used to bend (refract) light around the dislocated lens.

In rare cases where a person's vision is significantly affected, the lens may need to be replaced with an artificial one.

Psychological support

Being diagnosed with Marfan syndrome can sometimes be difficult to deal with emotionally. If your child has been diagnosed with the syndrome, you may be worried or upset about how it will affect them.

Speak to your GP if you or your child are finding the diagnosis difficult to cope with. They may be able to put you in touch with a support group through the Marfan Trust, or refer you to a counselling service.

Young people with Marfan syndrome may develop low self-esteem because of their physical appearance. As the symptoms tend to be most apparent during the teenage years, a young person may find them difficult to deal with. Speak to your GP if you're concerned.

Lifestyle

It's not usually necessary to make significant lifestyle changes if you have Marfan syndrome. However, a young person's career choice may be restricted.

Keeping fit through regular moderate exercise and eating a healthy, balanced diet will help improve your overall health.

Sport

If you have Marfan syndrome, you may be advised to avoid certain sports. For example, some people may not be able to participate in contact sports like rugby.

Other activities that may need to be avoided include:

  • long-distance running
  • heavy weightlifting
  • gymnastics
  • climbing

These types of sporting activities can place a strain on your heart. They raise your blood pressure and heart rate, which may increase the risk of an aortic tear.

These activities also place a strain on your joints. As people with Marfan syndrome often have weak joints, their risk of sustaining a joint injury during these activities may be increased.

Your cardiologist will be able to give you more advice about which sports and physical activities are suitable for you.


 
Top