Marfan syndrome can affect many parts of the body, including the skeleton, eyes and cardiovascular system (heart and blood vessels.
The symptoms of Marfan syndrome tend to get more severe as you get older.
Skeleton
Includes:
* tall
* slim
* have long, thin arms and legs
* have loose and very flexible joint
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 ...view middle of the document...
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.
Treatment for marfan:
How Is Marfan Syndrome Treated?
Marfan syndrome has no cure. However, treatments can help delay or prevent complications, especially when started early.
Marfan syndrome can affect many parts of your body, including your heart, bones and joints, eyes, nervous system, and lungs. The type of treatment you receive will depend on your signs and symptoms.
Heart Treatments
Aortic dilation, or aortic aneurysm, is the most common and serious heart problem linked to Marfan syndrome. In this condition, the aorta—the main artery that carries oxygen-rich blood to your body—stretches and grows weak.
Medicines are used to try to slow the rate of aortic dilation. Surgery is used to replace the dilated segment of aorta before it tears.
If you have Marfan syndrome, you'll need routine care and tests to check your heart valves and aorta.
Medicines
Beta blockers are medicines that help your heart beat slower and with less force. These medicines may help relieve strain on your aorta and slow the rate of aortic dilation.
Some people have side effects from beta blockers, such as tiredness and nausea (feeling sick to your stomach). If side effects occur, your doctor may prescribe a calcium channel blocker or ACE inhibitor instead of a beta blocker. Both medicines help relieve stress on the aorta.
Studies suggest that blocking a protein called TGF-beta may help prevent some of the effects of Marfan syndrome. Research shows that the medicine losartan may block the protein in other conditions.
The National Heart, Lung, and Blood Institute currently is sponsoring a study comparing losartan to a beta blocker in children and adults who have Marfan syndrome. The study's goal is to find out which medicine, if either, is best at slowing the rate of aortic dilation.
Surgery
If your aorta stretches, it's more likely to tear (a condition called...
