Marfan syndrome (or arachnodactyly) - an inherited disease characterized by failure of the connective tissue. The disease leads to pathological changes of the cardiovascular, nervous, musculoskeletal and other systems and organs.

Causes of Marfan syndrome

 Marfan syndrome
 Arachnodactyly inherited in an autosomal dominant pattern, so common in almost equal proportions, both men and women. It is a rare genetic disease with incidence of 1: 5000.

Numerous studies have shown that Marfan syndrome is caused by a mutation in the chromosome 15 gene protein fibrillin, resulting in disturbed structure and collagen production.

According to statistics, 75% of the mutated gene is passed on to children from ill parents, and in other cases lead to the disease spontaneously arising genetic mutations at conception.

The reasons for such "failures" in the genes to the end and have not been clarified, but with a probability of 50% can be argued that children born with Marfan syndrome, this disease will give descendants.

Symptoms of Marfan syndrome

The most noticeable symptoms of the disease include external shape of the person changes. Thus, the ill people have a relatively high growth of their relatives. Another sign, conspicuous - it asthenic constitution, in which the limb is much longer, and there arachnodactyly or "spider fingers". All people with this disease elongated skull, a small jaw with teeth properly growing and deep-set eyes.

Usually symptoms of Marfan syndrome are divided into groups according to the organs and systems in which they occur. For example, high growth and elongated limbs - is a manifestation on the part of the musculoskeletal system. This also includes curvature of the spine, chest deformity, soft joints and flat feet.

The symptoms of the eye - blurred and lens luxation (his removal from the natural location), myopia, retinal delamination and increased intraocular pressure.

The most dangerous symptoms of Marfan syndrome are symptoms related to the cardiovascular system. The disease leads to delamination of the walls of the aorta and the expansion of its roots, which can lead to sudden rupture of the main artery of the heart and almost inevitable death. In addition, the disease is sometimes observed Marfan leaky heart valves closing, which leads to an increase in its size, noise, shortness of breath and an irregular heartbeat.

Considered less serious manifestations of pathology of the lung, skin and nervous system.

Diagnosis of Marfan syndrome

To diagnose Marfan syndrome is possible only after a comprehensive survey by experts in different fields: cardiology, orthopedics, ophthalmology and genetics.

A doctor who specializes in genetic disorders, explore the history of the family in order to identify those relatives who have died from cardiovascular disease.

Cardiologist appoint chest X-rays and measurement of the electrical activity of the heart (ECG). We also need an echocardiogram, which is based on the size of the aorta will be obtained and verified the operation of valves.

Orthopedist determine whether the curvature of the chest and spine, flat feet, and other common problems.

Examination of the eye by an ophthalmologist will reveal abnormalities of the lens, if any.

The criteria for diagnosis of Marfan syndrome are strict and precise. This is due to the fact that a number of features typical of the disease (for example, do not always tall and thin man with long thin fingers sick). In addition, there are other connective tissue diseases that are accompanied by similar symptoms.

The final diagnosis depends on the confirmation or refutation arachnodactyly family history. If someone from the family had the disease, it is sufficient to confirm the two systems of the body, otherwise - in three.

Symptoms do not appear in early childhood, and found only with age. Timely diagnosis of Marfan syndrome is very important, but even if the diagnosis is made over the years, you can treat the symptoms before the final verdict of doctors.

Treatment of Marfan syndrome

To date, there are no effective methods of treatment of Marfan syndrome. All activities are reduced to prevent complications of the disease.

 Physiotherapy Marfan syndrome
 To prevent dangerous changes in aortic prescribers Inderal, but its effectiveness has not been proved. Sometimes performed plastic surgery of the aorta and heart valves. Pregnant women with Marfan's disease and severe pathology of the cardiovascular system is carried out elective caesarean section. For the prevention of thrombosis and infectious endocarditis after surgery appointed anticoagulants and antibiotics.

With a strong showing scoliosis physiotherapy and mechanical strengthening of the skeleton. Surgical correction is carried out if the deflection angle of the spine is 45 ° or more.

Prediction lives Marfan depends primarily on the severity and extent of changes that affect the cardiovascular system. When you break the pulmonary and aortic aneurysm in most cases, the patient dies.

Treatment of Marfan syndrome involves constant medical supervision and regular diagnostic testing. Physical activity Patients should be reduced to medium or low level, that is, to exclude sporting events, contact sports, scuba diving and isometric exercise. Women of childbearing age who have the disease, it is imperative to pass medical and genetic counseling.





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