Marfan Syndrome
Marfan Syndrome is classified as a genetic/heritable, variable disorder of connective tissue, which may affect many organs including the skeleton, lungs, eyes, heart and blood vessels. This condition, first described by Antoine Marfan in 1896, can affect both men and women of any race or ethnic group. It is one of more than 100 inherited disorders of connective tissue.
Signs and severity of this condition vary greatly and most affected people will not show all the possible signs and complications.
Skeletal Features
Affected people are often tall, slender and double-jointed (joint hypermobility). The arms , legs and fingers may be disproportionately long when compared with the trunk. Spinal curvature is common and may become quite severe without treatment. Easy fatigability is a frequent complaint and migraine headaches, cold hands and feet can be signs of poor circulation.
Cardiovascular
The most serious problems associated with Marfan Syndrome involve the cardiovascular system. Dilation of the ascending and sometimes the descending aorta, incompetence of the aortic and mitral valves, aneurysm and dissection of aorta. The aorta is usually wider and more fragile. Surgical repair is necessary when the aorta becomes greatly widened (greater than 5cms). Each person suspected of having Marfan Syndrome should have an Echocardiogram and regular check-ups so that this function of the heart and aorta can be assessed before serious problems arise. An Electrocardiogram (ECG) or Chest X-ray is not adequate screening. For someone with no serious cardiovascular problems an annual evaluation is adequate.
Serious heart murmurs or aortic enlargement may dictate more frequent medical check-ups. Aortic enlargement may begin quite early in life, although in some cases it may not occur until much later and in some instances it may never occur at all. People with potential or slight enlargement have been shown to benefit from Beta Blocker drug treatment.
Ocular Manifestation
The eyes require careful attention from early childhood. The lens of the eyes is off-centre or dislocated in about 75% of persons with Marfan Syndrome. Dislocation of the lens occurs in relatively few other conditions and is therefore, an important hallmark of the Marfan Syndrome, when present. Lens Dislocation usually occurs in early childhood. The most common effect on the eye is near sightedness (Myopia). Holes or tears on the inner lining of the eye (Retinal Detachments) may occur.
Lungs
In some cases Pneumothorax (collapse of the lungs) may occur requiring hospital treatment. Recurrent Pneumothorax may be treated to prevent further episodes.
Genetics
There is a 50% chance of each offspring of a Marfan Patient inheriting the Marfan Gene. The severity and pattern of this condition can be variable even within the same family. Most of the time this Gene is inherited from a parent who is affected. However, about 25% of cases occur as the result of a spontaneous mutation. In 1990 the Marfan Syndrome Gene was located on chromosome 15q. An error in this gene results in diminished fibrillin production. Fibrillin is a very fine fibre in connective tissue throughout the body.
