The Marfan Syndrome is an inherited disorder of connective tissue which affects many organ systems, including the skeleton, lungs, eyes, heart and blood vessels. This condition, first described by Dr Marfan in 1896, can affect both boys and girls of any race or ethnic group. It is estimated that over 5,000 people in the United Kingdom have Marfan Syndrome. A syndrome is a collection of physical features which, when they occur together, enable a physician to recognise a certain condition. Most affected people will not show all the signs and complications of Marfan Syndrome. Top of the page
Connective tissue, which holds the body together, binding skin to muscle, muscle to bone, is made of fine fibres and "glue". This tissue provides the stretchy strength of tendons and ligaments around joints, and in blood vessel walls. It is also important in
the eyes and lungs. In Marfan Syndrome a fine fibre called fibrillin is deficient in all these locations, accounting for the unusual stretchiness and weakness of tissues.
A gene for Marfan Syndrome has been located on chromosome 15. It directs the production of fibrillin. An error in this gene results in diminished fibrillin production. Marfan
Syndrome is, in 75% of cases, an inherited disorder of connective tissue – 25% of cases occur as a result of a spontaneous mutation. Each offspring of an affected person
has a 50% chance of inheriting the condition. The affected child will probably
be affected in the same way as the parent, but it may also be more or less severely affected. In 75% of cases one parent will also be affected, so apparently unaffected parents should be screened. The severity and pattern of disease are variable even within one family. Top of the page How
can you recognise Marfan features? Signs and severity of the condition vary greatly. Diagnosis is made after a careful physical examination, particularly focusing on the three main systems involved: - Eyes
- Heart
- Skeleton (including the jaw).
Certain tests such as an Echocardiogram (an Electrocardiogram is insufficient), chest and skeletal X- rays and a careful eye examination using a slit lamp are useful in making the diagnosis. Top of the page Salient
features - Eyes: Subluxation or dislocation of lens, myopia and unstable refraction, detachment of retina, strabismus, glaucoma.
- Mouth: High arched palate, crowding of teeth.
- Heart: Dilations of ascending (and sometime descending) aorta, incompetence of aortic and mitral valves, aneurysm and dissection of aorta.
- Skeletal: Tall thin build, with long limbs and fingers, spinal curvature, flattening of chest (with pigeon or funnel deformity), with arm span greater than height.
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treatment is available?
All complications of the Marfan’s Syndrome are amenable to correction. The major life threatening complication affects the aorta, which is the major vessel arising from the main pumping chamber of the heart. Due to abnormalities in the connective tissue in the wall of the aorta there is enlargement
and thinning of the aorta. When the aorta becomes very enlarged or dilated there is a possibility of tear developing in the wall (aortic dissection) or the entire aortic wall rupturing (aortic rupture). Both conditions are a medical emergency. Rupture of the aorta results in death within seconds or minutes whereas with dissection of the aorta there is often time for treatment.
To prevent both complications it is important to keep an eye on the size of the aorta. This is easily done by performing regular ultrasonic scans of the heart in those individuals affected by the condition.
If the aorta shows signs of becoming enlarged, further enlargements can be prevented by using drugs known as beta-blockers, which reduce the pressure (and hence the stress) within the aorta. These drugs do not
have serious complications but should not be given to anyone with asthma.
If treatment with these drugs does not halt enlargement then an operation is required. This involves strengthening the wall of the aorta with a supportive tube made from Dacron. The tube is placed so that it is in contact with the inner wall of the aorta and the enlarged portion of the aorta is sewn around this tube. Results from the operation are very good and although the operation is very delicate very few people die as a result of the operation.
Enlargement of the aorta can cause disturbance in the function of the aorta valve (leaky aortic valve). The function of the aortic valve is to prevent blood from going back into the heart once it has been pumped out. Malfunction of the valve causes a leakage of blood back into the heart. If the leak is very severe it causes breathlessness. In these situations the aortic valve is replaced by a prosthetic valve at the time of repair of the aorta.
Another complication which affects three quarters of people with Marfan
Syndrome, but can sometimes be serious in 1 in 10 patients, is leaking of the mitral valve. The abnormal connective tissue of the mitral valve causes it to leak mitral when the heart contracts. Constant leaking of the valve causes the main pumping chamber to work harder. If the leak is severe the main pumping chamber starts to tire and eventually fails. The main symptoms when this occurs are breathlessness, tiredness and palpitation. In this situation the valve is surgically repaired or a new prosthetic valve is inserted.
Apart from the heart the other site where complications can have serious consequence is the lungs. The lung can occasionally collapse (pneumothorax) out of the blue. This is rarely life threatening but sometime a one way valve is created which allows air into the thorax but does not allow air out. The build up of air causes an increase in pressure in the thorax which can compress the normal lung and the heart and the great vessels causing collapse and rapid death. Fortunately the complication is easy to recognise and can be treated very promptly by inserting a small needle into the affected side to let the air out.
Complications affecting the eyes, mouth and the skeleton are not life threatening and can be corrected. Top of the page Sports Guidelines PLEASE REMEMBER EACH PATIENT IS AFFECTED DIFFERENTLY AND OUR GENERAL RECOMMENDATIONS NEED TO BE DISCUSSED WITH THE PATIENT’S OWN MEDICAL ATTENDANTS AND PARENTS RECOMMENDED – (NOT HIGH LEVEL COMPETITION) Swimming, Cycling (on the level), Badmington, Cricket, Netball, Tennis, Archery, Fencing, Sailing, Table Tennis, Skiing, Canoeing, Golf, Bowls, Skating, Shot
Put, Discus, Javelin, Racketball, Football (no "heading"), Hockey. The child should be allowed to rest when tired. CONTRAINDICATED (TO PREVENT DAMAGE TO: E = EYE; H = HEART; J = JOINTS; L = LUNGS) Boxing (E)
Distance Running (H, J)
Rugby (H, J)
Weight-Lifting (H, J)
Rowing (H, J)
*Squash (E, H)
Karate/Judo (H, J) | Sky Diving (L)
Hang Gliding (L)
Deep Sea Diving (L)
High Altitude Mountaineering (L)
High Diving (E)
Trampolining (J)
Wrestling (H, J) |
Top of the page MEDICAL EMERGENCY There are only four rare complications requiring emergency care: - Aortic dissection
The child may present with severe chest pain as in a heart attack and may become unconscious. - Collapse of lung
May occur during periods of exertion and presents with severe breathlessness. The child may become blue and complain of chest pain. - Glaucoma
The dislocated lends may produce a sudden increase of pressure within the eye, causing acute eye pain. - Dislocations
Loose ligaments do not provide adequate support for joints, and cause dislocation.
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SYNDROME
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