Marfan syndrome

Marfan syndrome is a disorder of the body's connective tissues.

Information written and reviewed by Certified Doctors.

Contents

Introduction

Marfan syndrome is a disorder of the body's connective tissues. Children usually inherit it from one of their parents.

Connective tissue helps maintain the body's structure and provides support to other tissue and organs.

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)
  • 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 that it is passed to a child from their affected parent. There is a one in two chance that someone with Marfan syndrome will have a child who also has the syndrome.

A person with Marfan syndrome does not have enough of a protein called fibrillin in their connective tissue. This results in parts of their 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. So someone with Marfan syndrome may be tall because their arms and legs grow longer than normal.

Read more about the causes of Marfan syndrome.

Diagnosing Marfan syndrome

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

As the symptoms of Marfan syndrome do not always develop during childhood, the condition may not be identified until the teenage years.

A genetic test can be used to definitively confirm Marfan syndrome by closely studying the affected gene. However, because the gene can mutate (change) in over 1,000 different ways, it is a very time-consuming and expensive process.

Therefore, in most cases, a diagnosis of Marfan syndrome will be 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 is 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, treatment involves a number of healthcare professionals working together as a team. Your condition will be closely monitored and treated when complications occur.

The life expectancy of someone with Marfan syndrome may be reduced if the heart and aorta (the body's main artery) are significantly affected.

Read more about the possible treatments for Marfan syndrome.

Symptoms

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

The severity of the symptoms can vary between individuals. Some people with Marfan syndrome only experience a few mild symptoms, while others (about 1 in 10) experience more severe symptoms.

The symptoms of Marfan syndrome tend to get worse as you get older.

Skeleton

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

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

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

Other physical signs of Marfan syndrome can include:

  • a small lower jaw
  • 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 curved. This is known as scoliosis.

If the spine is curved, it can cause long-term backache. In severe cases, the curvature of the spine may make breathing difficult, or the spine may press against your heart and lungs.

Spondylolisthesis

Spondylolisthesis occurs when one vertebra (small bones that make up your spine) slips forward over another vertebra.

This usually occurs at the bottom end of the 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 (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.

Half of people with Marfan syndrome have lens dislocation. This is where the eye's lens (the transparent structure in the middle of your eye) falls into an abnormal position.

Other eye-related symptoms of Marfan syndrome include:

  • myopia (short-sightedness)
  • glaucoma – a condition where there is increased pressure in the eyeball that, if left untreated, can cause permanent vision loss
  • cataracts – when the lens in the eye becomes clouded
  • retinal detachment – the retina is the light-sensitive nerve tissue that lines the back of the eye

Cardiovascular system

Marfan syndrome can affect the cardiovascular system, which is made up of your heart and blood vessels. The heart-related symptoms of Marfan syndrome can be very serious and can affect your aorta and heart valves. These are explained in more detail below.

Aorta

The aorta is the main artery (blood vessel) 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 become enlarged and balloon. 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. They are known as the:

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

The valves act as one-way gates, allowing blood to flow through in one direction. In people with Marfan syndrome, the mitral or tricuspid valves can prolapse, which means that they do not close properly. This can lead to regurgitation, where blood leaks back through the valve. Read about common mitral valve problems.

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

Monitoring

If your doctor thinks that you may have Marfan syndrome, they will refer you 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 is not as resilient (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 will gradually fade to a silvery color and be difficult to see.

Causes

Marfan syndrome is a connective tissue disorder that is usually inherited from one of your parents.

Connective tissue helps the body maintain its structure and provides 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

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 making normal fibrillin. Genes are units of genetic material that you inherit from your parents. Fibrillin is a protein that helps give your connective tissue its:

  • 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 means that people with Marfan syndrome are often tall 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. It is an autosomal dominant condition, which 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 it 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.

Diagnosis

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 doctor or geneticist (gene specialist) will measure your symptoms against (see below).

Physical examination

Your doctor will carry out a physical examination that will include:

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

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

Medical history

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

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

Children

Marfan syndrome can be particularly difficult to diagnose in children, and it is very rare for the condition to be confirmed in a young child. This is because most of the syndrome's signs and symptoms do not usually appear until the teenage years.

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

Ghent criteria

Your doctor may compare your signs and symptoms against the Ghent criteria. This is a diagnostic tool that helps doctors and other healthcare professionals tell the difference between Marfan syndrome and other, similar conditions.

The Ghent criteria consist of major and minor criteria. The major criteria are features or symptoms that are common in people with Marfan syndrome and rare in people who do not have the syndrome.

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 as described below.

  • If you have a family history of Marfan syndrome, you will need to have one of the major criteria and one of the minor criteria 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 of the minor criteria that affect different systems in your body.

Some of the different criteria that your doctor 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 scoliosis (a curved spine)
  • dural ectasia (enlargement of the lining that surrounds part of the spinal cord)

Minor criteria

Minor criteria can include:

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

Further testing

Your doctor 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 that you may have are detailed below:

  • 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 also 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
  • a 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

Although the gene that causes Marfan syndrome has been identified, it can mutate (change) in over 1,000 different ways. Genes are single units of genetic material.

A genetic test can be used to examine the gene that is responsible for Marfan syndrome, and it can detect an error which causes the condition in 97% of patients. However, the test takes three months to complete and is very expensive.

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

Read more about genetic testing.

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, there are two possible tests that can be used:

  • chorionic villus sampling (CVS)
  • amniocentesis

These tests are described below.

Chorionic villus sampling

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) through the entrance of the womb. The sample can then be tested for genetic conditions.

Read more about chorionic villus sampling.

Amniocentesis

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

Read more about amniocentesis.

Caution

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

The severity of Marfan syndrome in the parent is 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. 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 does not have the defective gene. However, your child may have a different genetic mutation that was not tested for, which could still cause Marfan syndrome.

Treatment

There is 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 working together in a multi-disciplinary team (MDT).

You will usually be assigned a doctor to co-ordinate your treatment programme and ensure that 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.

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 (curvature of the spine) 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, a back brace may be recommended. The brace will not cure scoliosis, but it may stop the condition getting worse, particularly while your child is still growing.

Back braces are custom-made supports that fit around the shoulders and go down to the waist. The brace has to be worn for most of the day and night. Some children find it hard 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, surgery will usually be needed 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 (the 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 6-12 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. Your chest is concave if it caves inwards and convex if it protrudes outwards.

Rarely, if your chest is severely concave, it may press against your lungs and affect your breathing. In this case, 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 will be removed.

A convex chest should not cause any health problems and will not 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.

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. Therefore, it's important that your heart is treated as a priority.

You will need to have regular check-ups with a cardiologist (a heart specialist) 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 (the body's main artery) 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 hypertension (high blood pressure).

However, most people with Marfan syndrome have low blood pressure. 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.

Surgery

If your cardiologist feels it is 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 either repair or replace an enlarged aorta.

However, this operation must be carried out before the aorta becomes too big. Annual echocardiograms will show the aorta gradually enlarging over 10-15 years. When it measures 4.8cm you will be referred for surgery.

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

Eye problems

If you have been diagnosed with Marfan syndrome, you may be referred to an ophthalmologist (an eye care specialist) who will assess your eyes and vision. You may also need to have a yearly check-up to help identify any new developments.

Some of the 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 require 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 (painkilling medication that numbs the area being operated on).

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 a loss of vision, it cannot be cured. Therefore, your eyes will be carefully monitored to detect any signs of the condition.

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

Read more about how glaucoma is treated.

Glasses and contact lenses

If you are short-sighted, your vision can usually be corrected using glasses or contact lenses. If the lens (the 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 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 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 doctor 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.

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

Lifestyle

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

It should be noted that keeping fit by exercising regularly and eating a healthy, balanced diet will help 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 such as rugby. Other activities that you may need to avoid include:

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

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

The above 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 such activities may be increased.

Your cardiologist will be able to provide you with further advice about which sports and physical activities are suitable for you.

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