Marfan's syndrome is a genetic condition in which the connective tissue of the body, which is an important structural component in all organs, is abnormally weak and elastic. Marfan's is rare, affecting about 1 in 10,000 people, and variable in its features. It chiefly affects the eyes, skeleton, heart and major blood vessels. The gene defect was identified in 1990 and the abnormality of fibrillin, a connective tissue protein, in 1991.
Each human cell contains 23 pairs of chromosomes, one of each pair inherited from the mother and one from the father. Each chromosome carries many genes along its length and faults (known as mutations)in genes are expressed as faults in the structure of body chemicals. Marfan's syndrome is caused by a fault in a single dominant gene, this implies that the disease is present although only one of a pair of genes, either from the mother or the father, is affected. In about 25% of people with Marfan's the fault in the gene has occurred spontaneously before birth. In 75% it is inherited (passed on from the parents). Males and females are equally likely to be affected and, whether the gene was inherited or not, have a 50% chance of passing on the abnormal gene, and so the condition, to children of either sex. The gene for Marfan's syndrome lies on chromosome 15 and carries the code for the structure of fibrillin which is an important part of collagen, the main component of connective tissue. Various different mutations of the fibrillin gene have been found to cause Marfan's syndrome and this may account for the various different physical manifestations.
People with Marfan's syndrome are tall and usually of very slim build with especially long limbs, fingers and toes. They may have a high palate, either prominence or depression of the breast bone and sometimes curvature of the spine, especially in adolescence. They tend to have an early puberty and stop growing early so the final height of children is seldom as tall as seems likely through the school years. There is usually a degree of hypotonia (floppiness) of the joints, often with "double jointedness". These features may be apparent from birth or appear later in childhood. In the eyes the most common feature is short sightedness but there may be dislocation of the lens or a blue colour of the white of the eye. The changes in the heart and blood vessels cause the most serious potential complications. The heart valves may be abnormally floppy and this can cause them to become leaky. There may also be widening of the aorta, the major vessel carrying blood from the heart to the body, and this can develop a tear in the wall (aortic dissection). Some children with Marfan's syndrome have mild learning problems and there may also be a tendency to overactive behaviour.
Many people show physical features similar to those of Marfan's syndrome and, unless there is a clear family history, it can be difficult to confirm or refute the diagnosis. It is not yet generally possible to make a definite diagnosis by examination of the genes but this will no doubt become routine as knowledge advances.
It is doubly important that people with Marfan's do not smoke because this further damages collagen tissue. Although there is no curative or specific treatment much can be done to assist with the correction of any visual problems, the development of strength and movement skills, the prevention of progressive skeletal abnormality and the early detection and possible prevention (using beta blockers, a group of drugs which reduce the heart impulse) of progressive dilatation of the aorta. If progressive aortic dilatation or dissection does occur this section may sometimes need to be replaced surgically. Affected people and their families need to be fully informed about the condition.
In spite of the rather daunting list of possible complications it is important to appreciate that most people with Marfan's syndrome live full lives with few restrictions. Life expectancy is more than 60 years and improving all the time with better treatment. The Marfan Association, www.marfan.org.uk is an excellent source of information and support for families.
back to Conditions affecting children
Ó NHS Tayside; 2006; version 1.0
Disclaimer; no liability whatsoever is accepted for information given and all such information, especially with regard to drug usage (UK version provided), must be checked with a persons health provider.