Marfan syndrome can affect many areas of the body, as explained below.
How does Marfan syndrome affect the skeleton?
Most people with Marfan syndrome are tall and thin with slender arms and legs, although this is not always the case. Fingers and toes are usually long and slender and flat feet are common. The front of the chest is often prominent or curved inwards.
A person with Marfan syndrome often has a very characteristic facial appearance. The roof of the mouth is usually high and arched like a church window, and the teeth may become crowded.
Joints may be more flexible than usual ('double-jointed') or stiff. The spine may develop an Sshaped curve known as a scoliosis. It is very important to detect this early as it may need correction with a brace, or sometimes surgery.
How does Marfan syndrome affect the heart?
The heart pumps blood into the main artery of the body known as the aorta. The wall of the aorta is usually strong and elastic, especially where the heart joins the aorta at the 'aortic root'.
In Marfan syndrome the connective tissue in the aortic root is weakened, and the aortic root may stretch, or dilate. This happens in over 50% of adults with Marfan syndrome.
Stretching of the aortic root often starts to develop during childhood and, because it develops over time, the aortic root needs to be monitored on a regular basis using echo heart scans.
Any person with a stretched aortic root is referred to a cardiologist, who will prescribe medication that has been shown to slow the progression of aortic root stretching. The medication is known as a ‘beta (β) -blocker’. People with asthma may not tolerate beta (β) -blockers, so a different sort of medication may be prescribed.
In some people with Marfan syndrome the stretched aortic root develops a split called a dissection. This is a serious situation that requires surgical repair. Surgery can usually be planned, however, before a dissection occurs.
Another way in which the heart can be affected involves one of the heart valves known as the ‘mitral valve’. In Marfan syndrome the mitral valve can become 'floppy'. This does not always cause symptoms. Some people may develop breathlessness and an irregular pulse, and some people need to have their mitral valve repaired or replaced with an artificial valve. People with mitral valve problems are usually advised to take antibiotics when they have dental treatment or operations, to prevent infection of the valve.
How does Marfan syndrome affect the eyes?
People with Marfan syndrome are often short-sighted due to the shape of their eyes. The lens at the front of the eye dislocates in about 50% of people. This can usually be treated with glasses.
Some people may also experience detachment of the retina, which may need surgical treatment. It is important for people with Marfan syndrome to know that they may develop eye problems so that they can be treated quickly.
Can I take part in sports?
People with Marfan syndrome can take part in sport, but we would advise against contact sports like rugby and exercise that makes you strain a lot (like weight-lifting and squash) if your aortic root is dilated.
Is pregnancy safe?
Women with Marfan syndrome who have normal hearts usually tolerate pregnancy well. However, pregnancy can sometimes make the aortic root begin to stretch. Also, if a woman with Marfan syndrome already has a stretched aortic root this may increase during pregnancy.
For these reasons it is very important that you talk to your doctor if you are planning a family. Issues such as the method of delivery and pain relief need special attention and you should consider planning to deliver your baby in a central hospital such as the Royal Victoria Infirmary in Newcastle, or James Cook University Hospital in Middlesborough.
Does Marfan syndrome affect driving?
Your driving licence is not usually affected by a diagnosis of Marfan syndrome. However, you may be advised to notify the DVLA if you have severe visual impairment.
Can I still get insurance or a mortgage?
People with Marfan syndrome may experience difficulty with insurance or mortgage companies. If you need help and advice, please ask us and we can often support your application.