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.
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.
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.
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.
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.
See also the separate leaflet called The Heart and Blood Vessels.
See also the separate leaflet called The Eyes and Vision.
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:
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.
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).
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.
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.
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.
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.
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).
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.