Marfan's Syndrome

Marfan's syndrome is a genetic disorder. This means that you are born with it and it is passed on through families through special codes inside cells, called genes.

The connective tissue in your body becomes weakened. Different parts of your body can be affected including your heart, blood vessels, eyes and bones. Some people with Marfan's syndrome only have a few problems, while others are more severely affected.

The diagnosis is usually made because of any typical features that you may have. You may also have a history of Marfan's syndrome in your family. There is no cure but treatment is aimed at reducing the chance of any complications developing. It may include various medical and surgical treatments. If you have Marfan's syndrome, you have a 50% chance of passing on the condition to each of your children.

Understanding chromosomes and genes

Marfan's syndrome is a genetic disorder. This means that you are born with it and the genetic information is passed on through families by special codes inside cells, called genes. Many genes join together to make chromosomes, which are found in the centre (nucleus) of each cell in your body.

In general, each cell in your body contains 46 chromosomes arranged in 23 pairs. One chromosome from each pair is inherited from your mother and the other is inherited from your father.

One of these chromosome pairs is known as the sex chromosomes because this pair determines our sex. Females have two of the same kind of sex chromosome (XX). Males have two different sex chromosomes (XY). The Y chromosome contains the male determining genes. So, a normal female is 46, XX and a normal male is 46, XY.

What is Marfan's syndrome and how common is it?

Marfan's syndrome is a genetic disorder, meaning that you are born with it and the genetic information is passed on through families by special codes inside cells, called genes. There is a problem with the connective tissue in your body. (Your connective tissue supports, binds or separates other tissues and organs within your body and can also be a kind of 'packing' tissue in your body.) In Marfan's syndrome, your connective tissue becomes weak and 'floppy'.

Marfan's syndrome can affect connective tissue in different parts of your body including your heart, blood vessels, eyes and skeleton. It can affect different people in different ways and to different degrees. Some people with Marfan's syndrome are only mildly affected while others are more severely affected.

Marfan's syndrome is thought to affect about 1 in 3,300 people. It affects both males and females equally. It is the most common problem affecting connective tissue.

What causes Marfan's syndrome?

Marfan's syndrome is usually caused by a change or fault (mutation) in the genetic material in the fibrillin 1 (FBN1) gene on one of your chromosomes (chromosome 15). This gene is responsible for making a special protein called fibrillin. Fibrillin is an important part of connective tissue in the body. It helps to strengthen connective tissue and make it elastic. So, if not enough fibrillin is made, this can lead to 'floppy' and weak connective tissue. Fibrillin is found in connective tissue in many parts of your body, including your eyes, your blood vessels and your bones.

Three in four people who have Marfan's syndrome have a parent who also has Marfan's syndrome. You can inherit Marfan's syndrome from just one of your parents. It is known as an autosomal dominant disorder - only one of your parents needs to have the faulty gene to pass it on to you.

1 person in 4 has Marfan's syndrome because of a new change in genetic material ('new mutation'). Neither of their parents has the condition. For some reason, the change in the fibrillin gene happens for the first time in the egg or sperm of one of their parents.

What are the features of Marfan's syndrome?

Marfan's syndrome can affect different parts of your body. Not all parts of the body are affected in everyone. Some people with Marfan's syndrome may only have a few symptoms or problems, while others are more severely affected. The symptoms tend to get worse as you get older.

The following lists the most common problems and symptoms that may develop.

The heart and blood vessels

See also the separate leaflet called The Heart and Blood Vessels.

  • Heart and blood vessel problems are the most serious in people with Marfan's syndrome.
  • Marfan's syndrome can weaken the wall of the main blood artery in your body (called the 'aorta'), which runs from your heart, through the centre of your chest, and then through the centre of your tummy (abdomen). Because the walls of the aorta become weak, it can widen or 'bulge out'. This is known as an aortic aneurysm.
  • About 7 or 8 out of 10 people with Marfan's syndrome have widening of the main artery. In severe cases, the widened artery can tear or rupture. This can cause severe bleeding and possibly death. Widening of the main artery can be diagnosed at an early age and get worse over time. It seems to be more common in males than in females.
  • Some people with Marfan's syndrome have mitral valve prolapse. This is where one of the valves that separate the chambers of your heart becomes floppy. Your doctor may hear a heart murmur when they listen to your heart.

The skeleton

  • If you have Marfan's syndrome you will usually be taller and thinner than other members of your family who don't have Marfan's syndrome.
  • Your arms and legs may be longer than other people's.
  • Your fingers may be long and thin. This is called arachnodactyly.
  • Your breastbone may be depressed inwards and your ribs will curve inwards with it. This is called funnel chest (pectus excavatum). This can get worse with time and cause chest pain and breathing problems.
  • Sometimes the breastbone is pushed outwards so your chest is more rounded. This is called pigeon chest (pectus carinatum). It is usually painless and causes no health problems.
  • More than 6 out of 10 people with Marfan's syndrome have a sideways curve of the backbone (scoliosis). It can cause back pain. In severe cases it can put pressure on your heart and lungs and cause breathing problems.
  • Flat feet are also common.
  • There may be problems with the hip joints, leading to hip pain, stiffness and problems with walking. This may eventually cause osteoarthritis in your hip joints.
  • You may have joints which are loose and more flexible than usual.
  • Teeth and mouth problems can include a high, arched roof (palate) of your mouth, a small bottom jaw and crowding of your teeth.

The eyes

See also the separate leaflet called The Eyes and Vision.

  • In about half of people with Marfan's syndrome, the lens in your eye moves or falls into an abnormal position (called a lens dislocation). It can be present at birth or it may develop when you are a child or a teenager.
  • Part of the lining of your eye (the retina) may tear or peel away from the back of your eye. This is called a retinal detachment.
  • Other possible eye problems include short-sightedness (myopia), clouding of the lens within your eye (a cataract) and an increase in pressure within your eye (glaucoma).
  • Eye problems in people with Marfan's syndrome may cause problems with vision if they are not treated early enough.

Other features

  • An air leak from from one of your lungs may make the lung collapse (spontaneous pneumothorax). This will cause sudden chest pain and shortness of breath.
  • You may also notice stretch marks if you have Marfan's syndrome. Stretch marks are red/pink or white streaky lines on your skin. They are common during pregnancy or in people who have gained or lost a lot of weight. In people with Marfan's syndrome, because the skin is weaker than it should be, stretch marks can occur more easily. They are usually found on your shoulders, back and thighs.
  • Your brain and spinal cord are surrounded by a special membrane called the dura. In people with Marfan's syndrome, the dura may become weak and balloon outwards. This is called dural ectasia, which most often occurs in the lower back area. The ballooning dura can press on the backbone and also the nerves as they leave the spinal cord. This can cause back pain and also weakness and numbness in your legs. It can also cause headaches.

How is Marfan's syndrome diagnosed?

The diagnosis of Marfan's syndrome includes looking at your family history, sometimes doing some genetic tests, and also looking to see if different parts of your body have any of the typical problems.

Your doctor will usually start by asking you questions about your family and asking about any symptoms that you may have which suggest Marfan's syndrome. They may then examine you to look to see if you have any of the typical features described above.

Marfan's syndrome can sometimes be diagnosed in the womb (uterus) before birth or soon after birth. For most people, Marfan's syndrome is not diagnosed until later in childhood or in adulthood. This is because it can take a while for the typical symptoms and problems of Marfan's syndrome to become obvious.

Your doctor will usually refer you to a specialist if they suspect that you may have Marfan's syndrome. This will allow further tests to be carried out. These tests may include:

  • Chest X-ray to look for signs of a widened main blood artery in your body (the aorta).
  • Echocardiogram (an ultrasound scan of the heart) to look for heart problems and any widening of the aorta.
  • CT scan or MRI scan of the chest to look at the aorta, and also of the spine to look for any signs that the membrane surrounding your brain and spinal cord (called the dura) may have become weak and ballooned outwards (known as dural ectasia).
  • 24-hour ECG recording to look for heart rhythm problems.
  • An examination of your eyes to look for lens dislocation or problems with the lining at the back of your eye (retina).
  • X-rays of your hip and pelvis, which may show a deformity of your hip.
  • Genetic tests - there is no single genetic test that can diagnose Marfan's syndrome. Sometimes genetic testing is done to look for gene mutations but, most of the time, the diagnosis of Marfan's syndrome is made by the typical symptoms and problems that are found from other tests.

Doctors may use the Ghent criteria to help diagnose Marfan's syndrome. This includes a list of some of the typical features of Marfan's syndrome. There needs to be a certain number of features present to make a diagnosis of Marfan's syndrome.

What is the treatment for Marfan's syndrome?

There is no cure for Marfan's syndrome. However, some treatments are available to help with the problems that Marfan's syndrome causes. Because Marfan's syndrome may affect different parts of your body, you may be seen by different specialists. These specialists may include a heart specialist (cardiologist), an eye specialist (ophthalmologist), a bone and joint specialist (orthopaedic surgeon) and a specialist in genetic problems (geneticist).

Treatment for heart and blood vessel problems

If you have Marfan's syndrome you will have regular check-ups to look for, and to monitor, any heart and blood vessel problems. For example, you may have regular echocardiography to check for widening of your main blood artery (aorta).

There are medicines that may help to slow down any widening of your aorta. Beta-blockers are often prescribed for this reason. Other medicines used include calcium antagonists and ACE inhibitors.

Sometimes heart surgery is needed to repair or replace part of the main artery if it becomes too wide. This is because there is a risk that the artery may tear or burst suddenly. During surgery, the dilated part of the artery is replaced using a graft. Sometimes the valve between the heart and main blood artery (the aortic valve) is replaced as well. In some people, emergency surgery is needed if the main artery tears or bursts.

Heart surgery may also be needed for mitral valve problems.

Treatment for skeleton problems

A number of the problems with your bones that may occur with Marfan's syndrome may require treatment. Physiotherapy is often used for hip pain, back pain or problems with walking.

An abnormal curve of your spine (scoliosis) may be treated with a back brace. The idea is that the brace will stop the abnormal curve from getting any worse. A brace does not cure the abnormal curve of your spine. It may be particularly useful for children who are still growing. If severe then the abnormal curve of your spine may need surgery. See separate leaflet called Scoliosis (Curvature of the Spine).

If your breastbone is depressed inwards (pectus excavatum), your lungs and breathing may be affected and you may need to have surgery to correct this.

If your breastbone is pushed outwards (pectus carinatum) this does not usually cause any problems. Some people with their breastbone pushed outwards choose to have corrective surgery for cosmetic reasons. Surgery may also sometimes be needed to correct hip problems.

Treatment for eye problems

  • You will be seen regularly by an eye specialist if you have Marfan's syndrome. Treatment for eye problems may be needed.
  • For example, lasers can be used to repair a problem with the lining at the back of your eye (detached retina).
  • If the lens of your eye moves or falls into an abnormal position (dislocated lens), surgery to remove the lens from the eye may be needed.
  • If you develop clouding of the lens within your eye (a cataract), you may need the lens within your eye replaced by an artificial lens.
  • If you develop increased pressure within your eye (glaucoma), treatments may include various eye drops, medicines, laser treatment, and surgery.
  • Glasses or contact lenses may be needed if you have short sight (myopia).

Lifestyle changes

Most people with Marfan's syndrome can lead relatively normal lives. However, some competitive and contact sports may not be suitable if you have Marfan's syndrome.

You may also be advised to avoid scuba diving, climbing and weightlifting. This is because of the weakness in the main blood artery (aorta) and the eye, and any skeleton problems that you may have. Your specialist will advise whether you should avoid any specific activities.

Many activities and sports such as golf, walking and fishing are encouraged if you have Marfan's syndrome.

Other treatments

Being diagnosed with Marfan's syndrome may be a difficult thing for some people to deal with. Your height and appearance may cause some worries and affect your confidence and self-esteem. The chance that you may need some major surgery - for example, heart surgery - can be a difficult thing to deal with as well.

You may find it helpful to join a support group so that you can make contact with other people who have Marfan's syndrome. (Contact information can be found below.) You may also find some individual counselling helpful for both yourself and also your family members.

There may also be some other specialist treatments available for Marfan's syndrome. One example is hormone treatment to bring on puberty early in children so that their adult height can be reduced. Your specialist will be able to advise you about the latest treatments.

Can I pass on Marfan's syndrome to my children?

Yes - if you have Marfan's syndrome, for each child that you have, there is a 50:50 chance that they will also have Marfan's syndrome.

Prenatal testing using chorionic villus sampling or amniocentesis may be able to show whether your baby has the defective gene. However, you should remember that Marfan's syndrome is a variable disease. It affects different people in different ways. So a child that you have may be affected less severely, or more severely, than you are.

If you are a woman with Marfan's syndrome and you become pregnant, the pregnancy can put an increased strain on your heart. This may increase your risk of the main artery bursting (aortic rupture). You will need regular follow-up with a specialist if you have Marfan's syndrome and you become pregnant.

If you (or your partner) have Marfan's syndrome and you want to have children, you should first seek advice from a specialist in genetic problems (a geneticist).

What is the outlook (prognosis)?

The outlook for people with Marfan's syndrome is very variable. Some people with the syndrome only have a few problems which don't cause many difficulties. Other people with the syndrome may be severely affected.

If any heart problems are not treated, they can lead to death in some cases. For this reason, it is important that Marfan's syndrome should be recognised early so that you can have continuous monitoring, especially of any heart problems. Early recognition of Marfan's syndrome will also mean that treatment can be carried out to avoid serious complications. Eye problems may cause problems with vision.

Improved diagnosis and treatment of Marfan's syndrome are both helping to improve the prognosis in Marfan's syndrome.