Description of Marfan syndrome
Marfan syndrome is a rare genetic disease related to connective tissue disorders. It is caused by a genetic mutation that is either inherited from your parents (75%) or newly created (ie parents are healthy). The affected gene is glycoprotein fibrilin, which is one of the basic structural components of connective tissue. The syndrome affects most tissues in which the binder plays a significant role – aorta (aorta), the skeleton (backbone) and eyes. The diagnosis should be treated at least two of the named major systems or pass genetic mutations fibrilin (15th chromosome).
Typical is the affection of the heart and aorta, a tall, slender figure and thin muscles, eyes and joints disability. On the sick are quite striking long, slim “spider” finger – known as arachnodactyly.Joints are hyperelastic – increasingly flexible than in healthy people. Is affected and the spine forms deformities (abnormal curvature) such as scoliosis. The affection of the eye lens – in literature described as ectopia lentis. Lifting apparatus, which holds the lens in the eye in the correct position is defective lens can therefore deviate from its correct position, which causes the patient impaired vision (myopia).
What the patient directly life-threatening, especially in the young age of about 20 years, theinvolvement of the blood vessels – especially the aorta (artery called the aorta, which is the largest artery in the body, based on the left ventricle). Status gives rise aortic dissection (see below) and is significant especially because the dissected aorta can rupture and cause hemorrhage and circulatory collapse resulting shock state and death. Problems of the disease lies in the fact that the patient may not even be aware of their disability, although his attending practitioner by the above-described (and detected) symptoms had at least think about the disease and to send individuals to investigate further cardiological department.
Annually in the Czech Republic born about ten thus affected children worldwide are affected by one person in 5000, with about a quarter of patients have new mutations – not a disease inherited from his parents. Few people know that the wearer belonged Marfan syndrome and Niccolò Paganini, who (only) because of the long slender fingers worked as an outstanding violinist and became famous worldwide as a violin virtuoso.
Risk factors Marfan syndrome
The disease is genetically linked, and in varying degrees with each effect. Can not there to talk about specific risk factors. The only risk factor therefore remains a disease in family members.When disability disease risk is excessive physical exertion – heavy lifting, etc. demanding sport.
Prevention of Marfan syndrome
The disease is hereditary and its manifestations, whether any extent, can not not be prevented.Women with Marfan syndrome is not recommended for pregnant and if pregnancy occurs, it is necessary to avoid greater physical exertion and keep quiet in bed. It is generally recommended not to address a physically demanding sport and profession – therefore choose sedentary work is affected by the syndrome desirable.
Symptoms of Marfan syndrome
Marfan syndrome is characterized by symptoms that arise as a complication of the underlying causes of the disease, i.e. connective tissue disorders. Thus affected are tissues in which the binder plays a significant role. Such tissues include skin, muscle, bone, cartilage, ligaments, blood vessels, and among others by the fixing apparatus of the lens.
People with Marfan syndrome have hyperelastic joints, which means that the joints can be put into position, wherein the normal individual is not able (for the concept – attach thumb to the end portion of the forearm, abnormally bend the fingers, for example thumb and the like.). Affected not only the limbs, but also backbone that is susceptible to the formation of scoliosis (deflection from the axis of the spine) and other deformities. It can also be affected and the breastbone (sternum). Overall, the weakened muscle mass.
Eye involvement is an ectopic eye lens (ectopia lentis – deflection of the lens due to a faulty fixation camera lens). In a patient with this condition is apparent myopia and ocular examination guessable.
The most severe symptoms are associated with heart and aorta (aortic). Typically the formation of the aortic dissection. Aortic dissection is not only present in Marfan syndrome, but it is typical for it. Why actually occur? The wall of the aorta is affected part, which is said medium (approximately central portion of the vessel wall) that is weaker and prone to tearing and separation from the whole. Into the resulting longitudinal cracks in the wall that creates a lumen pocket gets blood that may pocket increasingly enlarging and condition thus giving rise to dissection of the aorta (the vessel is essentially creates two bores). Aortic dissection is reflected severe chest pain or radiating to the back, pain may be a pulsating character, intensity is compared with pain in myocardial infarction. Condition worsens after physical exertion. Among other abnormalities associated with Marfan syndrome include impaired cardiac valves, which in turn, may or may not clinically manifest as dyspnea, fatigue, and other symptoms associated with insufficiency of heart valves, and heart failure, as a blood pump (e.g. swelling, strong heartbeat – palpitations , pulse skipping).
Treatment of Marfan syndrome
Marfan syndrome can not be cured, you can only rectify some of the abnormalities that occur in the patient. Aortic dissection is usually resolves operations. During the operation is removed affected part of the aorta (most often the aortic root and the ascending part of the aorta), and is replaced with a synthetic material. Ectopia ophthalmic lenses is also solved surgically returning the lens to the correct position. The constitution of the skeleton and increased elasticity of joints can not be influenced.
How can I help myself
The disease is hereditary and is bound by its wearer with him is born. As already mentioned, clinically manifest for each subject to a different extent and complications can affect self-treatment. It is recommended to avoid excessive physical exertion (sport) and physically demanding occupations.
Complications of Marfan syndrome
The most serious complication of the disease is rupture (rupture), aortic dissection and subsequent death. Another risk is the fact that the dissection of the aorta wall may be a closure of any arteries from the aorta leaving and cause insufficient or no blood supply to the organs originally supplied, and then they may die.
