Marfan syndrome
Marfan syndrome is a hereditary disease of connective tissue. For the first time such a disease was described by the scientist Williams in 1876. Subsequently, the disease was also described by Marfan in 1896, who called this pathology his own name. The Marfan syndrome is transmitted according to the autosomal dominant type of inheritance.
Modern views on the development of this disease suggest that the revealed various disorders of connective tissue exchange in Marfan syndrome can be associated with a large number of mutations, as a result of which the structure of this tissue changes and as a result, all manifestations of this pathology are possible.
Manifestations of Marfan syndrome are characterized by the defeat of many vital organs and systems, which primarily include the musculoskeletal system, cardiovascular system, eyes, respiratory system. Among all possible violations from the musculoskeletal system, the most often encountered is the disharmony of the physical development of children. This deviation is manifested by the asthenic physique of the child, a high growth that exceeds the upper limits of age norms. In this case, there is a long length of the limbs, which are thinner compared to the limbs of healthy children. In addition, one can see an increase in the length of the fingers of the hands and feet, the "looseness" of the joints, the thorax has a funnel-shaped or keel-shaped deformation, and the face is narrow. In the newborn period, only the elongation of the fingers of the hands and feet is most often detected from the listed features of the skeleton, the remaining symptoms are formed at different periods of the child's life( usually during the first 7 years).
The most typical manifestations of cardiovascular damage in Marfan syndrome are mitral valve prolapse, aortic aneurysm, and heart rhythm disturbances. The appearance of cardiovascular disorders is already observed in the 1-2 years of the child's life. In this case, there is a gradual increase in the diameter of the aorta, which reaches the maximum possible size( up to 6 cm or more).But most often - at the age of 18-45 years. Often an aneurysm is complicated by the stratification of its walls, which can rapidly progress and capture the entire aortic region and the vessels that leave it. Such complications, as a rule, end in a lethal outcome. The most frequent reasons that contribute to a faster onset of tragic outcomes of the disease are emotional stress or physical overload.
In the case of pathological changes in the heart and vessels, the respiratory system is also affected. The causes of such violations in the case of Marfan syndrome are the mechanical factors of the compression of the respiratory system, which occurs when the chest is deformed. Another factor in the development of disturbances from the respiratory system is the possibility of involvement in the pathological process of connective tissue that is part of the lung tissue. Respiratory disorders in the form of spontaneous pneumothorax, pulmonary emphysema, and lung infarction among persons with Marfan syndrome occur at a frequency of 10% to 75% of all cases of the disease. Along with this, there are reports that Marfan syndrome can be accompanied by congenital maldevelopment of the lungs, numerous lung cysts, congenital emphysema, bilateral expansion of the lumen of the bronchi( broncho-ectazy).
The most typical eye damage in Marfan's syndrome is the dislocation and subluxation of the lens, which is due to the weakness of its ligaments. In this case, the lens can be shifted completely to any possible side, that is, its displacement does not have any definite direction. In most cases, this disorder is combined with myopia or high-grade hypermetropia. Less common are changes such as iris, cholera, glaucoma, enlargement of the veins of the fundus, degeneration or detachment of the retina. In some cases of this connective tissue disease, a combination of several different symptoms from the side of the organ of vision can be identified. The subluxation of the lens is more often detected at 1-5 years of the child's life, and sometimes even at the age of 7 years. Glaucoma, as well as degeneration or detachment of the retina, is usually seen in older persons( 18-40 years old).
With regard to violations of the central nervous system in the Marfan syndrome, the information proposed in the literature is quite contradictory. Thus, some researchers believe that persons suffering from Marfan syndrome always have normal intelligence, while others speak of a slight decrease in it. It is established that a number of world-famous people suffered from Marfan syndrome. Such people include US President A. Lincoln, as well as the great violinist Paganini.
Marfan syndrome is transmitted according to the autosomal dominant type of inheritance. With this syndrome in the urine, specific substances are detected, which are products of the broken metabolism of connective tissue. After reaching the age of 40, in most cases, decompensation of the pathological process occurs, as a result of which the formation of heart failure is observed, protrusions may appear on the walls of the blood vessels, which in some cases results in rupture of the vessel wall and extensive internal hemorrhage.
To clarify the diagnosis of Marfan syndrome, an X-ray examination method is necessary. In this case, there are signs of widespread osteoporosis of the bone tissue, the intercostal spaces appear larger compared to the norm. In addition, people with this disease can be noted increased mobility of the thumb of the hand, which is expressed in a person's ability to easily take this finger and touch it to the forearm of the same hand.
In order to determine the nature and severity of cardiovascular damage, it is necessary to perform ultrasound of the heart and ECG.At the same time, it must be remembered that there are a number of diseases that resemble Marfan syndrome in its manifestations. These are the so-called "marfan-like" syndromes.
With Marfan's syndrome, medication is prescribed, the goal of which is the normalization or stabilization of the pathological process, which takes place mainly in the cardiovascular and central nervous system, as well as in the organ of vision. To achieve this goal, preparations such as ozidan are prescribed, potassium preparations( panangin, potassium orotate and many others) are widely used, as well as various vitamins( A, B, C, E, etc.).Disorders from the endocrine system in Marfan syndrome can be partially restored by observing a certain diet with a high fat content. A positive result with this type of dietary correction in the Marfan syndrome is confirmed by numerous studies. Excess growth of the child with this disease occurs as a result of increased formation in the body of growth hormone( growth hormone).Since fatty acids contribute to a decrease in the intensity of production of this hormone, their consumption with food when dieting and gives a positive effect.
If necessary, the child is given repeated courses of massage and physical therapy. To achieve sustainable long-term rehabilitation, children with Marfan syndrome should be sent to specialized sanatoriums for those suffering from diseases of the musculoskeletal system and the cardiovascular system. It is necessary to treat chronic foci of infection located in the nasopharynx and oral cavity. These foci are primarily carious teeth, chronic tonsillitis, adenoids and sinusitis. If necessary, surgical methods of treatment are used, such as aortic and cardiac plasty, lens replacement, breast plastic surgery with severe deformation. In addition, such children should be under constant medical supervision, which is carried out in specialized clinics. Relatives of a sick child should also be observed. Inspection of specialists should be carried out at least 2 times a year. Along with the pediatrician, the oculist, cardiologist and orthopedic surgeon should observe. In case of noise in the heart, an additional examination should be done, which includes chest radiography, ECG, phonocardiography, ECHO cardiography and ultrasound of the heart. In order to accurately determine the status of the neuropsychological status, it is necessary to conduct electroencephalography and ECHO-encephalography.
Usually dilatation of the aorta, leading to delamination and / or dysfunction of the valves, primarily affects the sinus of Valsalva. According based on numerous observations, early surgery on the aorta rather late or compelling, and 10% of patients requiring surgical repair of the aortic root, there is a need to replace the mitral valve. In comparison with their untreated relatives, patients who received preventive surgical care have a long life expectancy.
With careful and proper dispensary observation of children suffering from Marfan syndrome, there is an improvement in the neuropsychic state of children: the auditory memory and voluntary attention are improved. Also the child is less often ill with various colds and respiratory diseases.
Special attention in the case of Marfan's syndrome should be addressed to questions of social adaptation and vocational guidance of children. All children of preschool age with this disease should be on an individual basis or visit specialized children's institutions. With all children of middle and senior school age, individual counseling should be conducted, the purpose of which is to select the best professional guidance for their state of health. In this case, a person suffering Marfan syndrome, should not be associated with professions requiring great physical and emotional stress, has various vibration where there is contact with various chemicals and radioactive substances, as well as special requiring from human responsiveness and maximal sharpnessview. Children
Marfan recognized disabled and receive the corresponding group if they have the following health deviations: III group - subluxation lens, aortic aneurysm( bulging aorta wall to 3.5-4 cm);II group - subluxation of the lenses, glaucoma, aortic aneurysm( 4.5-5 cm);Group I - subluxation of the lens, complicated by retinal detachment, aortic aneurysm( 5.5 cm and more).
A special problem is also the issue of bearing pregnancy and delivery in women with Marfan syndrome. If a woman has such changes on the part of the cardiovascular system, like aortic dilatation and heart valve failure, pregnancy and childbirth are very high risk for life. Minimal changes in the cardiovascular system are not a contraindication to pregnancy in women with this disease, and, as a rule, it ends safely.