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Marfan syndrome is a genetic condition in which the connective tissue of the body is disorder so that the individual has loose body structures. The connective system particularly affects the cardiovascular system, the eyes, the skin and the skeletal system in Marfan syndrome. Marfan syndrome is caused by a defect in the gene called fibrillin-1. This is a gene that is important in building elastic tissue and connective tissue in the body. The genetic defect causes excessive growth of the long bones of the body so that the individual grows out of control and is very tall at the time of adulthood. It isn't known exactly why Marfan syndrome patients grow to be so tall.

Other body areas affected by Marfan syndrome include lung tissue, the eyes (causing cataracts and slipped corneas), the skin (which is hyperelastic), the aorta, which can become weak and rupture, and the meninges covering the spinal cord.

While Marfan syndrome is genetic, up to thirty percent of cases have no parents with the syndrome. It is an autosomal dominant disease so that fifty percent of children of Marfan syndrome patients can get the disease. Sporadic cases are believed to be the result of a spontaneous change in the gene.

The typical symptoms of Marfan syndrome include a tall stature with thin arms, spider-like fingers-a medical condition known as arachnodactyly. The length of the outstretched arms exceeds their height, which is not found in normal people. Patients also have pectus excavatum or pectus carinatum, in which the sternum sinks in or sticks out, flat feet, a high arched palate, crowded teeth, learning disabilities, flexible joints, low muscle tone, near-sightedness, small lower jaw, dislocation of the lens of the eye, scoliosis, and a thin or narrow face.

Doctors can do tests for Marfan syndrome, which can be genetic testing. The examination of the body shows hyper-mobile joints and the possibility of an aortic aneurysm, a collapsed lung, problems with the heart valves being floppy, a dislocated lens of the eye, visual disturbances, and retinal detachment. Doctors can do several tests, called an echocardiogram and a fibrillin-1 mutation testing. The echo should be repeated annually so that any changes can be documented and surgery done at the right time.

The treatment of Marfan syndrome depends on treating the side effects rather than correcting the genetic defect. It is not yet possible to correct the genetic defect in the fibrillin-1 gene. Visual changes can be treated with eye glasses and sometimes surgery to correct dislocation of the lens. Doctors should look regularly for scoliosis, especially in the teen years, and this can be corrected with braces or surgery. Medicine is given to slow the rate of the heartbeat because it can prevent stress on the aorta. Marfan syndrome patients cannot engage in heavy athletics and shouldn't do contact sports so the heart is protected. The aortic valve and the aortic root need to be watched and treated with surgery if an aneurysm shows up or the valve becomes leaky. If you have Marfan syndrome, you need to take prophylactic antibiotics before dental procedures so you can avoid bacterial endocarditis. Pregnant women with Marfan syndrome need careful watching so they don't have complications of pregnancy due to their abnormal heart and aorta.

The prognosis of Marfan syndrome is fairly good if the individual is watched carefully and treated medically. Many patients survive into their sixties but not much beyond that unless they have careful treatment. Heart complications are a common cause of death.

Complications of Marfan syndrome include rupture of the aorta, regurgitation of the aortic valve, endocarditis from bacteria, dissecting aortic aneurysm, heart failure, scoliosis, mitral valve prolapse and visual disturbances from nearsightedness or dislocated lens.

Prevention of Marfan syndrome is not really all that possible because there are so many spontaneous mutations. If you have Marfan syndrome, you should have genetic counseling to understand your odds of passing the disease on to your children.

HELPLINE: ☎ 1800 633 634

Medical Negligence Solicitors

Our personal injury solicitors operate a specialist medical negligence compensation service. Our Marfan Syndrome solicitors deal with claims using a no win no fee arrangement which means that if you don�t win then you don�t pay them their professional costs. If you would like legal advice at no cost with no further obligation just complete the contact form or email our lawyers offices or use the helpline and a Marfan Syndrome solicitor will review your medical negligence compensation claim and phone you immediately.

HELPLINE: ☎ 1800 633 634

The author of the substantive medical writing on this website is Dr. Christine Traxler MD whose biography can be read here