heart defects

For diagnosis of the disease may use pozitronno-emissionn s tomography for visualization of pathologically altered metabolism. Marker ishemizirovannogo viable tool in the study of the seizure sohranny 18f-ftordezoksiglukoz in the market with reduced миокардиальной перфузией. Another marker reduction of free fatty acids in miocard. Modern development of medical genetics, the development and introduction of a clinical practice precision DNA using polymerase chain reaction identify significant progress in the recognition of a number of pathological processes. The existence of an association with the Majnoon mutation is the "gold standard" diagnosis of the disease. The detailed genetic defects characterized by varying degrees of penetrantnosti, manifestation morphological and clinical manifestations. The severity of clinical manifestations dependent on the presence and degree of atrophy. Mutations that are associated with high penetrantnostthew and poor prognosis, are more overdetermination LV and pour thick as those characterized by low penetrantnostthew and good projection. So, it has been shown that only a few mutations associated with poor prognosis and high incidence of sudden death. These include replacing Arg403Gln, Arg453Cys, Arg719Trp, Arg719Gln, Arg249Gln in gene heavy chain? -miosina, InsG791 in miozinsvazavatego gene protein C and Asp175Asn in gene? -tropomiosine. For mutations in the gene troponin T is moderate myocardial hypertrophy, but the prognosis is worse, and there is likely to sudden cardiac arrest. Other genetic anomalies are accompanied by the passage of sound and good projection, or have a position on the seriousness of their acts. Thus, Majnoon characterized by extreme heterogeneity of the problem, ie, gemodinamicakih and clinical manifestations, and the variety of options for the current and forecast making the choice of appropriate and the most effective treatment approaches for the control and correction of the violations Treatment For today's therapeutic strategy is in the process of the patients into categories depending on the above options, and the current forecast. All patients SCOP, including holders of pathological mutations without phenotypic manifestations of the disease and patients with bessimptomnam disease need to be dynamic monitoring, which is estimated nature and the severity of morphological and gemodinamicakih violations. Of particular importance is the identification of determinants of the poor outlook and the increased risk of sudden death (including hidden prognosticeski significant arrhythmias). Common activities include limiting significant physical labour and the prohibition of sports that can be increased thyroid diseases, improving vnutrijeludochkovogo gradient pressure and the risk of sudden death. To prevent infection endocardita in situations related to the development of diseases, and forms of obstructive SCOP recommended antibiotikoprophylactika similar to that of patients with congenital heart defects. So far, had not resolved the question of the need for an active drug therapy the largest group of patients with asymptomatic or malosimptomna forms Majnoon and low probability of sudden death. Opponents proactive draw attention to the fact that, with a favourable course of life expectancy and death rates did not differ from those in the general population. Some authors suggest that the use in this group of patients? -adrenoblokatorov And calcium antagonists (verapamil) may help limit gemodinamicakih violations and clinical symptoms.