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Marfan Syndrome
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Marfan syndrome is a genetic disease that affects the connective tissue of the body. This includes the connective tissue that surrounds joints, that surrounds and supports the blood vessels and that keeps organs in their place. Because we need connective tissue in many places, the implications of Marfan syndrome can involve many body areas. The most commonly affected areas in Marfan's syndrome include the eyes, the heart, the skeleton and the blood vessels.
People with Marfan's syndrome tend to be very tall and have tall extremities, including fingers and toes. The condition is caused by a dominant gene so you have a fifty percent chance of passing it on to your offspring if you have it.
Some people have only minor symptoms of Marfan's syndrome, while others can die from complications of severe Marfan's syndrome. As one ages, the complications of Marfan's syndrome become greater and the risk of death is higher.
The major symptoms of Marfan's syndrome include being tall and slim, having arms, legs, fingers and toes that are out of proportion to the rest of the body and are very long. The sternum or breastplate can dip inward into the body or protrude outward from the body. There is often a high, arched palate and the teeth are crowded within the mouth. Heart murmurs are common and the individual often is extremely nearsighted. Scoliosis of the spine is common as are flat feet. Men and women are affected equally with Marfan's syndrome and it doesn't occur in any ethnic group greater than any other ethnic group. The major risk factor of Marfan's syndrome is having a parent with the disease.
There are many complications of Marfan's syndrome including those of the heart and blood vessels. An aortic aneurysm is a common complication of Marfan's syndrome. This can lead to dissection of the aorta in the thorax or in the abdomen. This is when the layers of the aorta separate and blood passes through the different layers. The aorta can easily perforate, leading to a ruptured aorta and certain death. There can be valvular malformations that make the valves too elastic to contain blood in the atria or ventricles. The heart must work harder in order to compensate for the leakage problem. Heart failure is a possibility.
There can be eye complications including dislocation of the lenses of the eye because the ligaments holding the lenses in place are weak. Glaucoma is also a possible complication. Cataracts can form that impair vision and the retina can become detached in the back of the eye.
Lung complications are also possible. Marfan's syndrome patients are more likely to have curvature of the spine which impacts lung excursion. Emphysema, COPD, collapsed lung and sleep apnea are common lung complications of Marfan's syndrome.
There are increased pregnancy complications in women who get pregnant and who have Marfan's syndrome. The aorta can increase rapidly in size and can rupture in pregnancy. This is usually a lethal condition. Doctors monitor the size of the aorta to see if it is enlarging during pregnancy and can help divert a possible rupture by terminating the pregnancy when the aorta is enlarged past a certain point.
The diagnosis of Marfan syndrome can be done via assessment of physical findings commonly seen in the disorder. The family history helps with the diagnosis. In order to see if there are problems associated with Marfan syndrome, doctors can do an echocardiogram to see what the valves look like. The size of the aorta is measured during an echocardiogram and a CT or MRI exam highlights the aortic structures. A slit lamp exam is used to see if there are eye complications and an eye pressure test is done to check for glaucoma.
Genetic testing can be done to test those people who have no obvious complications of Marfan syndrome. It can be done on family members to see who has Marfan syndrome and who does not. Those who test positive can undergo further testing for complications of Marfan syndrome.
There is no cure for Marfan syndrome and treatment is focused on preventing and treating complications. The aorta is measured periodically for evidence of aortic enlargement. Medications are given to lower the blood pressure and prevent aortic enlargement. Beta blockers are commonly chosen antihypertensive medications.
Surgery can be done to fix an enlarged aorta and there are treatments available for things like scoliosis and a concave chest.