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Marfan syndrome

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Marfan syndrome



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 it 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)



heart defects



lens dislocation – where the lens of the eye falls into an abnormal position



What causes Marfan syndrome?

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

In around three-quarters of cases, Marfan syndrome is inherited from one parent. In the remaining quarter of cases, neither parent has the syndrome.

There's a one in two chance that the child of a person with Marfan syndrome will have the syndrome.

The gene defect leads to abnormal production of a certain 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 that someone with Marfan syndrome may be tall because their arms and legs grow longer than normal.

Diagnosing Marfan syndrome

Diagnosing Marfan syndrome can be difficult because 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.

A genetic test can be used to definitively confirm Marfan syndrome by closely studying the affected gene. However, it's a time consuming and expensive process as the gene can mutate in more than 1,000 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.

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, treatment involves a number of healthcare professionals working together as a team. You'll be closely monitored and any complications will be treated if they 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.

How common is Marfan syndrome?

Although Marfan syndrome is rare, affecting about 1 in 3,000 people, it's one of the most common connective tissue disorders.

Both men and women are equally affected by Marfan syndrome.

Symptoms of Marfan syndrome 

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 varies widely. While some people experience a few mild symptoms, others (about 1 in 10) experience more severe symptoms.

The symptoms of Marfan syndrome tend to get more severe 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 doesn't necessarily mean that they have Marfan syndrome. It's a rare syndrome and your child will usually have a number of other symptoms if they do have it.

Other physical signs 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 or the spine may press against the heart and lungs.

Spondylolisthesis

Spondylolisthesis occurs when one vertebra (the 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. Dural ectasia is a condition that occurs when 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 in the middle of your eye) falls into an abnormal position.

Other 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 the eye's lens becomes clouded



retinal detachment – where the retina (the thin lining at the back of your eye) 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 is particularly serious if your aorta and heart valves are affected.

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, which 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 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 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 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. 

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 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'll gradually fade to a silvery colour and will be difficult to see.

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

Vision problems and driving

Vision problems can affect your driving ability. You're legally obliged to inform the Driver and Vehicle Licensing Agency (DVLA) about a medical condition that could affect your ability to drive.

Causes of Marfan syndrome 

Marfan syndrome is a connective tissue disorder that's usuallyinherited 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's 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) and strength (to help support organs and other parts of your body).

Most people have lots of fibrillin in their:



bones, ligaments, tendons and cartilage



aorta (main artery)



eye tissue



If you have Marfan syndrome, you don't 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. 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 has the syndrome.

The syndrome is autosomal dominant, which means that a child can inherit it even if only one parent has the syndrome. 

If you have Marfan syndrome, there's a one in two chance of passing it on to your child.

Spontaneous Marfan syndrome

Around a quarter of people with Marfan syndrome don't have a parent with the syndrome.

In such cases, the fibrillin gene mutates (changes) for the first time in the egg or sperm of the parent.

Although the parent won't have Marfan syndrome, the mutated gene can sometimes be passed on to the child, who may then go on to develop the syndrome.

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 (gene specialist) will measure your symptoms against.

Physical examination

Your GP will carry out a physical examination, which 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 sometimes be difficult to distinguish the syndrome from other syndromes that affect the body's connective tissue, such as Ehlers-Danlos syndromeor Beals 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 very rare for it to be diagnosed in a young child. This is because most of the syndrome's signs and symptoms don't usually appear until the teenage years.

If Marfan syndrome is suspected, your child will be carefully monitored so that 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 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 don't have the syndrome.

Minor criteria are features or symptoms that are 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 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 scoliosis (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 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 that you may have include:



an eye examination – this is carried out by an ophthalmologist (a doctor who specialises in eye conditions) to check for dislocation of the lens



an echocardiogram – this 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 – this 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 more than 1,000 different ways. Genes are single units of genetic material.

A genetic test can be used to examine the gene responsible for Marfan syndrome. It is able to detect an error that causes the condition in 97% of patients.

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.

Prenatal testing

If you have Marfan syndrome and you're going to become a parent, you may want to have your unborn baby tested to find out whether he or she also has the syndrome.

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 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.

Amniocentesis

Marfan syndrome can also be tested for using amniocentesis. This test is carried out about 16 to 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.

Caution

It's important to remember that although prenatal tests may show whether your child has the defective gene, they won't give 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 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 that could still cause Marfan syndrome.

 

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 working together in a multidisciplinary team (MDT).

Your MDT will consist of some of the following specialists:



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 or 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 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 won't cure scoliosis, but it may stop the condition getting worse, particularly in children while they are 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 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, 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's 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. 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 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.

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 (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'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 either repair or replace an enlarged aorta.

However, this operation must be carried out before the aorta becomes too big. An echocardiogram will be carried out every year to monitor the diameter of the aorta. Surgery will be considered when it measures between 4.5 and 4.8cm.

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 ruptures or tears.

Eye problems

If you've 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 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 (painkilling medication that numbs the area being operated on).

Glaucoma

People with Marfan syndrome have a higher risk of developingglaucoma (a condition caused by increased pressure in the eyeball).

Once glaucoma has caused a loss of vision, 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.

Glasses and contact lenses

If you're 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 difficult to deal with emotionally. 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 is finding the diagnosis difficult to cope with. They may be able to put you in touch with a support group through Marfan Association UK 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 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 GP if you're concerned.

Lifestyle

If you have Marfan syndrome, it's 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 may need to be avoided include:



long distance running



heavy weightlifting



gymnastics



climbing



These types of sports 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.



Marfan syndrome