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Marfan syndrome

 

Marfan syndrome is a genetic (inherited) condition that affects the body's connective tissues. Connective tissues provide support and structure to other tissue and organs.

The symptoms of Marfan syndrome vary from person to person, as the condition can affect the connective tissues in different areas of the body. For example, it can affect:

  • blood vessels, causing damage to the heart
  • skeleton, causing long, thin limbs
  • eyes, causing the lens (the transparent structure at the front of the eye) to fall into an abnormal position (lens dislocation)

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

Marfan syndrome is hereditary, which means it is passed to a child from their parents. There is a one in two chance that someone with Marfan syndrome will have a child with the condition.

How common is Marfan syndrome?

Marfan syndrome is relatively rare. Approximately 1 in 5,000 people have the syndrome. Men and women are equally affected. Although rare, Marfan syndrome is the most common connective tissue disorder.

In around three-quarters of cases, Marfan syndrome is inherited from one of the parents. However, in a quarter of cases, neither parent has the condition.

Outlook

There is no definitive test to diagnose Marfan syndrome. Instead, the condition is diagnosed by identifying a number of different symptoms. As the symptoms may not develop during childhood, a definitive diagnosis will sometimes not be made until the child is a teenager.

Marfan syndrome is a potentially serious condition because it can affect the heart and blood vessels. Although there is currently no cure for Marfan syndrome, treatments are available that can help manage the symptoms.

With regular assessments to screen for complications and prompt treatment when complications occur, the life expectancy of someone with Marfan syndrome should not be greatly affected.

Blood vessels
Blood vessels are the tubes in which blood travels to and from parts of the body. The three main types of blood vessels are veins, arteries and capillaries.

Connective tissue
Connective tissues help to provide support and structure to other tissue and organs.

Lens
The transparent structure at the front of your eye, just behind your pupil (the black circle in the centre).

Marfan syndrome can affect many parts of the body. The main parts of the body that are affected by Marfan syndrome are the:

  • skeleton
  • eyes
  • cardiovascular system (the heart and blood vessels)

The symptoms of Marfan syndrome can vary in severity between people. Some people with the condition may only experience a few mild symptoms, while others may experience more severe symptoms.

Approximately 1 in 10 people with Marfan syndrome are severely affected. The symptoms tend to worsen as you get older.

Skeleton

People with Marfan syndrome tend to have several physical characteristics, including:

  • being tall
  • being slim
  • having long, thin arms and legs
  • having loose and very flexible joints

If your child is particularly slim or tall for their age, it does not mean that they have Marfan syndrome. Marfan syndrome is a relatively rare condition, and your child will usually have a variety of other symptoms if they have the condition.

Other physical signs of Marfan syndrome can include:

  • small bottom jaw
  • high, arched palate (roof of the mouth)
  • deep-set eyes
  • flat feet
  • breastbone (sternum) that either protrudes outward or caves inward
  • crowded teeth

Scoliosis

Marfan syndrome can cause the spine to become curved. This is known as scoliosis. If the spine is curved, it can cause chronic (long-term) backache. In severe cases, the curvature of the spine may make it difficult to breathe, or the spine may press against your heart and lungs.

Spondylolisthesis

Spondylolisthesis occurs when one vertebra (small bone in your spine) slips forward over another vertebra. It usually occurs at the bottom end of your spine and can cause back pain and stiffness. Although anyone can develop spondylolisthesis, it is most common in people with Marfan syndrome.

Dural ectasia

The dura is the membrane (thin layer of cells) that lines your brain and spinal cord. Dura ectasia is a condition that occurs when the dura becomes weakened and expands outwards.

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

  • backache
  • headache
  • numbness or pain in your legs

Eyes

Many people with Marfan syndrome will have some type of vision problem. For example, over half of people with the syndrome have lens dislocation. Symptoms of Marfan syndrome that can affect your vision include:

  • short sightedness (myopia)
  • lens dislocation, when the lens (the transparent structure at the front of your eye) falls into an abnormal position
  • glaucoma, a condition that is caused by increased pressure in the eyeball and can cause permanent loss of vision if left untreated
  • cataracts, when the lens in the eye becomes clouded
  • detachment or tears in the retina (the retina is the light-sensitive nerve tissue that lines the back of the eye)

If you have vision problems, it could affect your ability to drive. You should discuss this with your doctor as you may need to notify the Road Safety Authority www.rsa.ie

Cardiovascular system

Marfan syndrome can affect your cardiovascular system, which is made up of your heart and blood vessels. Heart-related symptoms can be very serious and can affect your:

  • aorta
  • valves

These are explained in more detail below.

Aorta

The aorta is the main artery (blood vessel) in your body. It runs from your heart down the centre of your chest and through your abdomen (tummy).

The walls of the aorta are weak in people who have Marfan syndrome. This can sometimes cause the aorta to become enlarged and bulge out. This is known as an aortic aneurysm.

In severe cases, the aorta can rupture (split) and cause 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 the correct direction. In people with Marfan syndrome, the mitral or tricupsid valves can prolapse, which means that they do not close properly. This can lead to regurgitation, where blood leaks back through the valve.

Monitoring

If your GP thinks that you may have Marfan syndrome, they will refer you to a specialist in Marfan syndrome for testing. Your heart and blood vessels will be examined for the symptoms of the syndrome. See Marfan syndrome - diagnosis for more details.

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 is not as resilient (elastic) as it should be. If you have Marfan syndrome, stretch marks are most likely to appear over your:

  • shoulders
  • hips
  • lower back

Blood vessels
Blood vessels are the tubes in which blood travels to and from parts of the body. The three main types of blood vessels are veins, arteries and capillaries.

Connective tissue
Connective tissues help to provide support and structure to other tissue and organs.

Heart
The heart is a muscular organ that pumps blood around the body.

Joint
Joints are the connection point between two bones that allow movement.

Lens
The transparent structure at the front of your eye, just behind your pupil (the black circle in the centre).

Retina
The retina is the nerve tissue lining the back of the eye, which senses light and colour, and sends it to the brain as electrical impulses.

Spinal cord
The spinal cord is a column of nervous tissue located in the spinal column. It sends messages between the brain and the rest of the body.

Spine
The spine supports the skeleton and surrounds and protects the delicate spinal cord and nerves. It is made up of 33 bones called the vertebrae.

Marfan syndrome causes a person’s joints to become very flexible, and their bones to grow longer and thinner than usual 

Marfan syndrome is a condition that affects the connective tissue. Connective tissue is used by the body to help maintain its structure and to provide support and structure to other tissue and organs.

Connective tissue is usually strong and resilient (elastic). It is made up of a number of proteins, including:

  • collagen
  • elastin
  • fibrillin

These proteins are usually produced by the body, but in people with Marfan syndrome, a genetic defect affects the production of fibrillin. 

Fibrillin

Marfan syndrome is caused by a defective gene that stops your body from making fibrillin. Genes are units of genetic material that you inherit from your parents. Fibrillin is a protein that helps give your connective tissue:

  • elasticity to help it move and flex
  • strength to help it support organs and other parts of your body

Most people have lots of fibrillin in their:

  • bones
  • aorta (main artery)
  • eye tissue

If you have Marfan syndrome, you do not have enough fibrillin, which means that these parts of your body can stretch abnormally when put under any kind of stress.

The defective fibrillin gene also causes some of the bones in your body to grow longer than they should. This gives people with Marfan syndrome a tall appearance because their arms and legs tend to grow longer than normal.

Inheriting Marfan syndrome

Most people with Marfan syndrome inherit the faulty gene from a parent who already has the condition. Marfan syndrome is an autosomal dominant condition. This means that a child can inherit the syndrome even if only one parent has the condition. 

Therefore, if you have Marfan syndrome, you have a one in two chance of passing the condition on to your child.

Spontaneous Marfan syndrome

Around a quarter of people with Marfan syndrome do not have a parent with the condition.

In such cases, the fibrillin gene mutates (changes) for the first time in the egg or sperm of the parent. Although the parent will not have Marfan syndrome, the mutated gene can sometimes be passed on to the child, who may then go on to develop the condition.

Aorta
The aorta is a large blood vessel that runs down the abdomen and transports blood away from the heart.

Connective tissue
Connective tissues help to provide support and structure to other tissue and organs.

Gene
A gene is a unit of genetic material that determines your body's characteristics.

Genetic
Genetic is a term that refers to genes. Genes are the characteristics inherited from a family member.

A diagnosis of Marfan syndrome will be based on your medical and family history and a physical examination. There is no single test that can confirm a diagnosis of Marfan syndrome, but there are criteria that your GP will measure your symptoms against.

Medical history

Your GP will have a detailed look at your:

  • medical history, to find out if you have had any symptoms or illnesses in the past that may be a sign of Marfan syndrome
  • family history, because having a close family member with Marfan syndrome can increase your chances of having the condition

Physical examination

Your GP may also carry out a physical examination, including:

  • listening to your heart
  • checking your skin for stretch marks
  • looking for any physical features of the syndrome, such as long, thin arms

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

Sometimes, it may also be difficult to distinguish Marfan syndrome from other conditions that cause similar symptoms, such as Ehlers-Danlos syndrome or Beals syndrome (both conditions affect the body's connective tissue).

Diagnosing children

Marfan syndrome can be particularly difficult to diagnose in children, and it is very rare for a young child to be definitively diagnosed with Marfan syndrome. This is because most symptoms of the syndrome will not usually appear until the child is a teenager or young adult.

A child with suspected Marfan syndrome will usually be carefully monitored, so that any developing symptoms can be detected and treated as soon as possible.

Ghent criteria

Your GP may examine your 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 conditions.

The Ghent criteria consist of major and minor criteria. Major criteria are features or symptoms that are common in people with Marfan syndrome and rare in people who do not have the condition. Minor criteria are features or symptoms that are present in people with Marfan syndrome but are also present in people who do not have it.

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

  • If you have a family history of Marfan syndrome, you will need to have one major criterion and one minor criterion that affect different systems in your body (such as your skeleton and your blood vessels).
  • If you do not have a family history of Marfan syndrome, you will need to have two major criteria and one minor criterion affecting different systems in your body.

Some of the different criteria that your GP may use are outlined below.

Major criteria

Major criteria can include:

  • an enlarged aorta (main artery)
  • 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 a curved spine (scoliosis)
  • dural ectasia (enlargement of the lining that surrounds part of the spinal cord)

Minor criteria

Minor criteria can include:

  • short-sightedness (myopia)
  • unexplained stretch marks
  • loose joints
  • a long, thin face
  • a high, arched palate (roof of the mouth)

Further testing

To help confirm your diagnosis, your GP may arrange for you to have further testing at a hospital or clinic. This will also help detect any potentially serious symptoms, such as an enlarged aorta. Some of the tests you may require may include:

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

Genetic testing

There is no single genetic test that can definitively diagnose Marfan syndrome. Although the gene (unit of genetic material) that causes Marfan syndrome has been identified, it can mutate in over 200 different ways. This means that devising a single test for Marfan syndrome is very difficult.

Testing for the different gene mutations that can occur in Marfan syndrome is a very costly and time-consuming process. In most cases, a diagnosis can be made from the physical features and symptoms of the condition.

Prenatal testing

If you have Marfan syndrome and you are going to become a parent, you may want to have your unborn baby tested to find out whether they also have the condition. To do this, two possible tests may be used:

These tests are described briefly below.

Chorionic villus sampling (CVS)

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

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

See the Health A-Z topic about Chorionic villus sampling for more information.

Amniocentesis

Marfan syndrome can also be tested for using amniocentesis. This test is carried out approximately 16-18 weeks into the pregnancy. It involves taking a small sample of amniotic fluid (the fluid that surrounds the unborn baby in the womb) for examination.

See the Health A-Z topic about Amniocentesis for more information.

Caution

It is important to remember that although these tests may show whether your child has the defective gene, it will not give you any indication as to how serious their Marfan syndrome will be.

The severity of Marfan syndrome in the parent is not an indication of how severe the syndrome will be in the child. Your child may only experience very mild symptoms, despite having the genetic mutation.

In some cases, the results of CVS or amniocentesis could be negative, suggesting that your child does not have the defective gene. However, your child may have a different genetic mutation that was not tested for, and which could still cause Marfan syndrome.

Aorta
The aorta is a large blood vessel that runs down the abdomen and transports blood away from the heart.

Blood vessels
Blood vessels are the tubes in which blood travels to and from parts of the body. The three main types of blood vessels are veins, arteries and capillaries.

Connective tissue
Connective tissues help to provide support and structure to other tissue and organs.

Gene
A gene is a unit of genetic material that determines your body's characteristics.

Genetic
Genetic is a term that refers to genes. Genes are the characteristics inherited from a family member.

Heart
The heart is a muscular organ that pumps blood around the body.

Joint
Joints are the connection point between two bones that allow movement.

Lens
The transparent structure at the front of your eye, just behind your pupil (the black circle in the centre).

Spinal cord
The spinal cord is a column of nervous tissue located in the spinal column. It sends messages between the brain and the rest of the body.

Spine
The spine supports the skeleton, and surrounds and protects the delicate spinal cord and nerves. It is made up of 33 bones called the vertebrae.

Uterus
The uterus (or womb) is a hollow, pear-shaped organ in a woman where a baby grows during pregnancy.

There is currently no cure for Marfan syndrome. Instead, treatment focuses on easing 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 working together in a multi-disciplinary team (MDT). You will usually have a doctor who co-ordinates your treatment programme and makes sure that every aspect of the syndrome is closely monitored and treated, if necessary.

Treating 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. However, there are a number of ways that the skeletal symptoms of Marfan syndrome can be treated. Some of these are outlined below.

Scoliosis

Treatment for scoliosis (a curved spine) will depend on how severely your spine is curved.

If your child has been diagnosed with Marfan syndrome and also has scoliosis, the first line of treatment may be a back brace. A back brace will not cure scoliosis, but it may stop the condition from getting any worse, particularly while your child is still growing.

Back braces are custom-made supports. They fit around your shoulders and go down to your waist. The brace has to be worn for most of the day and night. Some children can find it very difficult to adapt to wearing a back brace because they can feel awkward and uncomfortable at first.

However, a back brace will only be effective if your child wears it for the correct amount of time. After a while, most children will find that they become used to wearing a back brace.

If the curve of your spine is greater than 50 degrees, you will usually require surgery to help straighten it. Surgery is the only way to cure scoliosis.

During the operation, your surgeon will usually take small pieces of your pelvic bone (the ring of bone that supports your upper body, also called the hip bones) and insert them between several of your vertebrae (bones in your spine). This is known as bone graft surgery and will help correct the overall shape of your spine.

The pelvic bone will eventually fuse with your spine, helping to straighten it. Metal rods and screws will be used to help keep the bone in place while it is fusing together.

This bone-fusing process can take several months, and it may take up to a year before the bones have completely fused together. Children who have the surgery can usually return to school four to six weeks after the operation.

After 6 to 12 months, most people who have had the surgery will be able to resume all of their normal activities, including playing sports.

Convex and concave chest

Marfan syndrome can sometimes affect the natural position of the chest. If your chest is concave, this means it caves inwards. If your chest is convex, it protrudes outwards.

If your chest is severely concave, it may press against your lungs and affect your breathing. If your breathing is affected, surgery will usually be required to help ease the pressure on your lungs.

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

A convex chest should not cause any health problems and will not usually require any treatment. However, some people with a convex chest choose to have it treated for cosmetic reasons.

Physiotherapy

Physiotherapy is a form of treatment that uses physical methods, such as exercise, massage and manipulation, to promote healing and wellbeing. It can help improve your range of movement.

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

See the Health A-Z topic about Physiotherapy for more information.

Treating heart problems

Marfan syndrome can cause serious heart problems which, in some cases, can be fatal. Therefore, if you have heart problems, it is very important that your heart is treated as a priority.

You will need to have regular check-ups with a cardiologist (a specialist in treating heart conditions), who will be able to monitor your heart. This may mean having an echocardiogram every year. An echocardiogram is where an ultrasound scan is used to produce an image of your heart. The test can identify the structure, thickness and movement of each heart valve.

Therefore, any potential heart-related symptoms or complications can be detected and treated as soon as possible. Some of the possible treatment options for the heart are outlined below.

Beta-blockers

People with Marfan syndrome are often prescribed a type of medicine known as beta-blockers to help prevent damage to their heart.

Beta-blockers are usually used to treat high blood pressure (hypertension). However, people with Marfan syndrome are often prescribed this medicine, even if their blood pressure is normal. This is because beta-blockers decrease the strength of your heartbeat, which helps slow down any enlargement of the aorta (main artery).

Beta-blockers can cause side effects, which commonly include:

  • tiredness
  • cold hands and feet
  • diarrhoea
  • nausea (feeling sick)

See the Health A-Z: beta blockers for more information.

Surgery

If your cardiologist feels that it is necessary, you may require heart surgery to help reduce your risk of developing any life-threatening complications.

The most common type of heart surgery that is performed for people with Marfan syndrome is an operation to either repair or replace an enlarged aorta. However, this operation must be carried out before your aorta becomes too big. If your aorta is severely enlarged, the risk of it tearing or rupturing (splitting) during the operation is too high for the benefits to outweigh the risks.

If your aorta is ruptured or torn, you will need to have emergency surgery.

Treating eye problems

If you have been diagnosed with Marfan syndrome, you may be referred to an ophthalmologist so that your eyes and vision can be assessed. You may also need to be assessed annually (each year) to check for any new developments.

Some of the eye problems that Marfan syndrome can cause are potentially serious and, in some cases, they may lead to a permanent loss of vision. This is why it is very important for your eyes to be assessed and, if necessary, treated as soon as possible.

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

Cataracts

If you develop cataracts as a result of Marfan syndrome, you may require surgery to replace the clouded lens with an artificial one. Cataract operations are usually performed as keyhole surgery (through a very small cut) under local anaesthetic (painkilling medication).

See the Health A-Z: childhood cataracts for more information about this procedure.

Glaucoma

People with Marfan syndrome have a higher risk of developing glaucoma (a condition that is caused by increased pressure in the eyeball). Once glaucoma has caused a loss of vision, it cannot be cured. Therefore, your eyes will be carefully monitored to detect any signs of the condition.

Although it cannot be cured, it is usually possible to prevent glaucoma from getting worse. Treatment options can include eye drops, laser treatment or surgery.

See the Health A-Z: glaucoma for more information.

Glasses and contact lenses

If you are short-sighted, your vision can usually be corrected using glasses or contact lenses. If the lens (transparent structure at the front of your eye) is dislocated, specially designed glasses or contact lenses can sometimes be used to refract (bend) light around the dislocated lens.

In rare cases, where your vision is more significantly affected, the lens may need to be replaced with an artificial one.

Psychological support

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

Speak to your GP if you or your child has been diagnosed with Marfan syndrome and you are finding it difficult to cope. They may be able to put you in touch with a support group or refer you to a counselling service.

See the Health A-Z topic about Counselling for more information.

Young people with Marfan syndrome may develop low self-esteem about their physical appearance. As the symptoms of the syndrome tend to be most apparent during the teenage years, young people may find them difficult to deal with. Speak to your GP if your child has low self-esteem and you are concerned about them.

Lifestyle

You should not have to make any significant changes to your lifestyle if you are diagnosed with Marfan syndrome. However, keeping fit and eating a healthy, balanced diet will improve your overall health. You may also be advised to avoid some sports.

Sport

Some people with Marfan syndrome may not be able to participate in contact sports or those that are vigorously competitive, such as rugby. Other activities to avoid may include:

  • scuba diving
  • weightlifting
  • gymnastics
  • climbing

This is because these types of activities can:

  • strain your heart. Exercise raises your blood pressure and heart rate, which may increase the risk of an aortic tear occurring
  • strain your joints. People with Marfan syndrome often have weak joints and therefore have an increased risk of sustaining a joint injury

Your cardiologist (heart specialist) will be able to advise you about which sports and activities are suitable for you.

Aorta
The aorta is a large blood vessel that runs down the abdomen and transports blood away from the heart.

Blood vessels
Blood vessels are the tubes in which blood travels to and from parts of the body. The three main types of blood vessels are veins, arteries and capillaries.

Connective tissue
Connective tissues help to provide support and structure to other tissue and organs.

Heart
The heart is a muscular organ that pumps blood around the body.

Joint
Joints are the connection point between two bones that allow movement.

Lens
The transparent structure at the front of the eye, just behind the pupil (the black circle in the centre).

Retina
The retina is the nerve tissue lining the back of the eye, which senses light and colour and sends it to the brain as electrical impulses.

Spine
The spine supports the skeleton and surrounds and protects the delicate spinal cord and nerves. It is made up of 33 bones called the vertebrae.

Spinal cord
The spinal cord is a column of nervous tissue located in the spinal column. It sends messages between the brain and the rest of the body.

Multi-disciplinary team (MDT)

Your treatment will usually be organised by a multi-disciplinary team (MDT). Your MDT may include some of the following healthcare specialists:

  • a geneticist: a specialist in genetic disorders
  • a genetic counsellor: a healthcare professional who provides information, emotional support and guidance to people who have been diagnosed with a genetic condition
  • a cardiologist: a specialist in conditions that affect the heart
  • 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 or bones
  • a general paediatrician: a specialist in treating babies and children

Content provided by NHS Choices www.nhs.uk and adapted for Ireland by the Health A-Z.