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Marfan's Syndrome

marfan's syndrome

 

Marfan's syndrome is a genetic disorder that is usually inherited from one of your parents. 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 are only mildly affected while others are more severely affected.


What are the features of Marfan's syndrome?

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

The heart and blood vessels
Heart and blood vessel problems are the most serious in people with Marfan's syndrome. Marfan's syndrome can make the wall of your aorta, the main artery in your body, weak., it can widen or 'bulge out'. This is known as an aneurysm. About 7-8 out of 10 people with Marfan's syndrome have widening of the aorta. In severe cases, the widened aorta can tear or rupture. This can cause severe internal bleeding and possible death. Widening of the aorta can become obvious at an early age and get worse over time. It seems to be more common in males than 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

The skeleton
If you have Marfan's syndrome you will generally be taller and thinner than others .Your arms and legs may be disproportionately longer than your body. Your arm span may be greater than your height.youwill have unusually long, slender fingers.

You may have funnel chest. Your breast bone is depressed inwards and your ribs can curve inwards with it. This can worsen over time in some people. In severe cases, it can lead to chest pain and breathing problem.You may have pigeon chest.. Your breastbone protrudes forwards so that your chest is more rounded than usual. It is usually painless and causes no health problems.

You may have scoliosis. This is where you have lateral (sideways) curvature of your backbone. It can lead to back pain and deformity. In severe cases it can put pressure on your heart and lungs and cause breathing problems.

Flat feet are another common feature.

Hip joint deformity can occur leading to hip pain, stiffness, problems walking and eventually osteoarthritis.

You may have hypermobile joints. This means that your joints are very loose and flexible.

High arched palate, a small bottom jaw and crowding of your teeth.

The eyes
About half of people with Marfan's syndrome have lens dislocation. This means that your lens within your eye moves, or falls, into an abnormal position. It can be present at birth or it may develop during childhood or adolescence.

Retina , the tissue at the back of your eye might get detached .Other possible eye problems include myopia (short-sightedness), cataracts (clouding of the lens within your eye) and glaucoma (an increase in pressure within your eye).

Eye problems associated with Marfan's syndrome may lead to loss of vision if they are not recognised and treated.

Other features.
You may also notice stretch marks whichare usually found on your shoulders, mid-back, and thighs.

Your brain and spinal cord are surrounded by a special membrane which becomes weakened and can can press on the vertebrae of the backbone and also your nerves. This can lead to low back pain, weakness, and loss of sensation in your legs. It can also cause headache.

How is Marfan's syndrome diagnosed?

The diagnosis of Marfan's syndrome is quite complex. It involves looking at your family history, sometimes doing some genetic tests. Your doctor will usually start by asking you questions about your family and enquiring about any symptoms that you may have which may suggest Marfan's syndrome. They may then examine you to look to see if you have any of the typical features. For example, an arm span greater than your height, a high, arched palate. Marfan's syndrome is not diagnosed until later in childhood, adolescence or 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 to look for the typical problems that are associated with the syndrome and to confirm the diagnosis.

Tests may include:
Chest X-ray to look for signs of a widened aorta.

Echocardiogram to look for heart problems and any widening of the aorta.

CT or MRI scans of the chest to look at the aorta, and also of the spine.

24-hour ECG recording to look for heart rhythm problems.

An examination of your eyes to look for lens dislocation, retinal tears and any other eye problems.

Hip/pelvis X-ray may show the hip deformity.

Genetic tests - unfortunately there is no single genetic test that can diagnose Marfan's syndrome. most of the time, the diagnosis of Marfan's syndrome is made by the typical symptoms and problems that are found on other testing.

What is the treatment for Marfan's syndrome?

There is no cure for Marfan's syndrome. However, various 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 have follow-up with a number of different specialists. For example, a cardiologist (heart specialist), an ophthalmologist (eye specialist), an orthopaedic surgeon (bone and joint specialist), a geneticist (a specialist in genetic problems), etc.

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 aorta.

There are various drugs that may help to slow down any widening of your aorta. Beta blockers are commonly prescribed for this reason. Other drugs including a group of drugs called calcium antagonists, another group called ACE inhibitors, and another drug called losartan which may also be used.

Sometimes heart surgery is needed to repair or replace part of the aorta if it becomes too wide. This is because there is a risk that the aorta tears or ruptures suddenly. In some people, emergency surgery is needed if the aorta does rupture or tear.Heart surgery may also be needed for mitral valve problems.

Treatment for skeletal problems

Physiotherapy is commonly used for various problems; for example, hip pain, back pain or mobility problems. Scoliosis may be treated initially with a back brace. may be particularly useful in children who are still growing. If severe, scoliosis may need corrective surgery. If you have funnel chest that affects your lungs and breathing, you may need to have corrective surgery for this. Also, surgery may sometimes be needed to correct hip problems.

Treatment for eye problems

Lasers can be used to repair a detached retina. If you have a dislocated lens, sometimes surgery to remove the lens from within the eye is needed. If you develop cataracts, you may need the lens within your eye replaced by an artificial lens. If you develop glaucoma, possible treatments include various eye drops, drugs, laser and surgery.Glasses or contact lenses may be needed if you have myopia (short-sightedness).

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. Also, if you are a woman with Marfan's syndrome and you become pregnant, the pregnancy can put an increased demand on your heart. This may increase your risk of aortic rupture. You will need close and specialist follow-up if you have Marfan's syndrome and you become pregnant. If you or your partner have Marfan's syndrome and you are considering pregnancy, you should seek specialist advice from a geneticist beforehand.

What is the prognosis (outlook)?

The fact that Marfan's syndrome can affect your heart is the major risk associated with Marfan's syndrome. If heart problems are left untreated, they can lead to death in some cases. For this reason, it is important that Marfan's syndrome is recognised early so that you can have continuous monitoring, especially of any heart problems, and treatment can be carried out to avoid complications such as aortic rupture or tearing. Rarely, eye problems related to Marfan's syndrome can lead to loss of vision.

Improved detection and diagnosis of Marfan's syndrome, as well as timely and improved surgical techniques, and the use of drugs, such as beta blockers to slow widening of the aorta, are all helping to improve prognosis in Marfan's syndrome


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