Martan Syndrome

Marfan syndrome refers to a number of pathologies, which are based on a single gene mutation. In the case of this rare disease, the hereditary factor causes a violation of connecting tissue. There is a failure in the work of the enzyme system responsible for the products of structural protein for the growth of connecting cells. All diseases developing against the background of the syndrome lead to disability.

For the first time, a complex of signs characteristic of syndrome was identified and described in 1876. The disease received its name only after 20 years, after the French doctor Martan led the patient with a characteristic set of symptoms. There is a suggestion that Marfan's syndrome was at Leslie Hornbi, more well-known public as a TViggy model, and quite accurately found that the 16th American president was suffering from the disease. Lincoln and Virtuoso Violin Paganini.

Symptomatic picture of the disease

Arachnodactilia, genetics, kifoscoliosis, flatfoot, marfana syndrome, joints

Marfan syndrome - severe pathology affecting a number of vital organs and organism systems: heart and vessels, lungs, eyes, brain.

Pathological external manifestations of Martha Syndrome:

  1. Asthenic type of physique.
  2. Sharp discrepancy of high growth (more than 180 cm) low body weight (less than 50 kg).
  3. Arahanodactilia (so-called «Puachge» fingers).
  4. Kifoscolyosis.
  5. Deformed chest.
  6. Flatfoot.
  7. «Flat» face.
  8. «Gothic» sky.
  9. Antimonogoloid eye cut.
  10. Large ears below the usual.
  11. Disproportionately big nose.

These are the most common signs of pathology, their set of each patient is individual. Immediately after the birth of a child with Martan syndrome, the unarmed eye can note the asthenic physique and the arachnodactyl. Other external «peculiarities» In a patient, the baby will be formed during the first seven years of his life.

From the destructive effect of the syndrome, the cardiovascular system is strongly suffering, which is confirmed by the presence in the history of patients of the mitral valve and aortic aneurysms. These violations are becoming obvious, as a rule, after a half or two years after the birth of a child with Marfan syndrome. Against the background of pathologies, the diameter of the aorta increases over time, which, starting with adolescence, up to 45 years old, reaches critical sizes (over 6 cm).

Often, the aortic aneurysm is seriously complicated: its walls begin to settle. This process will quickly progress and covers the entire length of the aorta, as well as all the vessels that take the beginning from her. With such a complication of the patient's life threatens a fatal outcome.

The destructive effect of the syndrome also applies to the bronchopile system, which is due to the mechanical squeezing of the respiration organs with a deformed chest, as well as a change in the structure of the lung tissue. Often, Martan Syndrome is complicated by spontaneous pneumothorax, pulmonary emphysema, lung infarction, pulmonary form of polycystic.

Dislocation and submissions of the lens of the eye - a feature typical of this pathology, which is often accompanied by myopia and severe hypermetropy. Several less often can be diagnosed with secondary glaucoma, cataract, retinal detachment.

Intelligent sphere in patients with Martan syndrome, fortunately, remains normal (85 - 110 units). Among people with such a disease there are identities with a very high level of IQ in 115 units. However, the disease still contributes a certain originality in the nature of mental processes - the victims of the syndrome are unnecessarily irritable, plaxive, they often have a unreasonable self-esteem.

All children suffering from this pathology are physically weak, they are often tormented by muscle pain. Also observed attacks Migrene After a strong emotional burst or physical activity.

Diagnosis of the disease

Arachnodactilia, genetics, kifoscoliosis, flatfoot, marfana syndrome, joints

MirSets leads a brief excerpt from this scheme:

  1. Beta adrenoblockers (Obizant, Atenolol) during the year.
  2. Nootrops, in particular piracetam - for 2 months, 3 courses per year.
  3. Energotropics and antioxidants:
  • Riboxin for 1 month, 3 courses per year;
  • Vitamins of group B - for 10 days each month;
  • Vitamin C - within 1 month, from 3 to 4 courses per year;
  • Vitamin E - within 3-4 months per year;
  • Elkar - 3 courses per year;
  • Dimphosbon - for 1 month, 3-4 courses per year;
  • Limontar - within 10 days, up to 4 courses per year.

In addition to drugs, the patient shows a complex of rehabilitation procedures, among which magnetotherapy for joints, electrosone, therapeutic physical education, aimed at the musculoskeletal system, rest in the sanatorium.

Operational intervention in the form of thoracoplasty, removal of lens, aortic plastics, tonsilectomy and adenotomy is possible only with appropriate indications.

Also, doctors advise parents on issues that relate to leisure of a small patient: a child with marfana syndrome is categorically contraindicated by sports, participation in rolling games, long walking hiking.

The purpose of general treatment is to achieve regression or stabilization in the development of the disease. Therapy can be considered effective if the patient has a decrease in sensitivity to power loads, multiplication of muscle strength, stabilization of the size of the aorta. The victory over the disease can be considered to improve the shallow motility, the normalization of the emotional perception of others, the improvement of arbitrary memory and the ability to concentrate attention, improving the marks in the educational institution.

The disease is not a hindrance to continue the kind, you only need to observe some precautions. For example, pregnant women suffering from such pathology needed 1 time in 2 months to do echocardiography to control the dynamics of the aorta growth. The lumen of the aorta, which increased to 4.5 cm, is a signal for an immediate solution to the possibility of further tooling the child. Future Mama with Martan Syndrome shows the operation of caesarean section in a facility for pregnant women with cardiovascular diseases.

Prevention of the disease

Arachnodactilia, genetics, kifoscoliosis, flatfoot, marfana syndrome, joints

Before getting off the offspring, future parents, one of which suffers from Marfan's syndrome, must consult from genetics: a specialist will answer all questions relating to the risks of development of similar pathology in a child. Also do not forget about prenatal diagnosis.

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