These changes in the deformations may be the first signs of deterioration of the left ventricular function and the existence of primary cardiomyopathy in young adults with mitral valve prolapse, which may be caused by increased transforming growth factor-β signalling.

The article describes the current algorithms of diagnostics of inherited (dysplasia) of connective tissue (DCD) that are currently in force in the territory of the Russian Federation, compared in terms of identification of morpho-functional cha racteristics of heart. Describes the shortcomings of these algorithms do not take into account the gender features of the prevalence of signs. According to the algorithm, developed by experts of Russian Society of Cardiology (RSC), highlight dysplastic phenotypes, most of which is now a marfanoid habitus (MH). Revision of the diagnostic algorithm, which takes into account the specificity of individual MH bone signs and their gender dimensions. It is proved that for young people with MH is characterized by increased frequency of cardiac anomalias (atrial Septal aneurysm, the functional asymmetry of the aortic valve), identified structural features heart-relative myocardial hypertrophy of the left ventricle, increasing the diameter of the aorta. The features of heart rate in patients with MH – relative tachycardia during daylight hours, reducing the symptoms of sinus arrhythmia, decreased heart rate variability power spectral. It is shown that for boys with MH is characterized by lengthening the electrical systole (QT interval), 21.4% of cases greater than 480 Ms. At the same time, the DCD diagnostic algorithm that is described in the recommendations of the Russian Scientific Society of therapists (RSSIM leads to over diagnosis this condition in young age does not allow to identify the structural and functional features of the heart and could not be recommended for practical use.

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According to contemporary views, hereditary connective tissue disorders divided classified Marfan syndrome, Loeys-Dietz’s, Ehlers-Danlos syndrome, the primary mitral valve prolapse. It is known that the fibrillinopaty, which include the Marfan syndrome and Loeys-Dietz’s is characterized by activation of TGF-β signaling pathway. With high le vels of TGF-β attributed most of these clinical manifestations these diseases – aneurysm of the aorta, arahnodaktylya, duralectasy. Assessment of the activity of TGF-β in persons with marfanoid habitus has not previously been studied. Materials and methods. As part of this work, surveyed 70 people: 61 patients young age (median age of 20.1 ± 2.1 years), among which 36 boys and 25 girls and 9 men with verified diagnosis Marfan syndrome (median age 27.9 ± 9.3 years). All survey performed Echocardiography with a targeted search of small anomalies of heart. Results. Correlation analysis showed a direct and reliable connection between arahnodaktylya and concentration of TGF-β1 in serum (r = 0.4, p = 0.05). For young people with signs of marfanoid habitus are characterized by reliably a higher concentration in the serum of both isoforms of TGF-β. Excess of threshold levels of TGF-β1 revealed at 20% of the core group and not found at all in the control (p < 0.05). Among persons with exceedances of threshold values for at least one faction of the TGF-β patients with signs of marfanoid habitus met almost three times more often than in the group with normal values of TGF-β (p = 0.01, χ2 = 5.58). In the group of persons with marfanoid habitus and increases TGF-β are detected more frequently such as atrial septal aneurysm, false chord left ventricle papillary muscles, incremental, deflection of shutters of the mitral valve in 1-2 mm, asymmetry tricuspid aortic valve.

Согласно российским рекомендациям по наследственным нарушениям соединительной ткани выделяют ряд дис-пластических фенотипов, одним из которых является марфаноидная внешность. Распространенность марфаноидной внешности среди практически здоровых лиц молодого возраста и морфометрические особенности сердца у таких пациентов ранее не изучались. Материалы и методы. В рамках работы обследовано 560 практически здоровых лиц молодого возраста в возрасте от 18 до 25 лет (средний возраст 19,2 ± 1,4 года). Всем выполнено фенотипическое и антропометрическое обследование, а части (320 человек) -эхокардиографическое исследование с прицельным поиском малых аномалий сердца. Результаты. В ходе работы оценена встречаемость марфаноидной внешности у лиц молодого возраста в зависимости от пола и избранного порога оценки коэффициентов долихостеномелии и арахно-дактилии. Показано, что использование указанных в Российских рекомендациях алгоритмов оценки марфаноидной внешности позволяет выявлять это состояние почти у половины практически здоровых лиц мужского пола, что чре-вато гипердиагностикой этого фенотипа у юношей. Показано, что для девушек с марфаноидной внешностью харак-терны изменения морфометрических показателей -больший индекс массы миокарда, большая толщина миокарда, тенденция к увеличению левого предсердия; также лицам с марфаноидной внешностью свойственна более высокая встречаемость малых аномалий сердца, таких как пролапсы митрального и трикуспидального клапанов, ложные хор-ды левого желудочка, открытое овальное окно.Ключевые слова: наследственные нарушения соединительной ткани; костные признаки дизэмбриогенеза; долихостеномелия; арахнодактилия; марфаноидная внешность; малые аномалии сердца. Official Russian guidelines for inherited connective tissue diseases distinguish a range of dysplastic phenotypes, with the marfanoid habitus being one of them. The prevalence of the marfanoid habitus and morfometrical heart singularities among the young practically healthy persons were not studied before. Materials and methods of the study: 560 practically healthy young persons aged from 18 to 25 years (average value 19.2 ± 1.4) were examined within the framework of the study. All the persons were subjected to phenotypical and anthropometrical examinations, with a group of 320 persons studied with the Echo-cardiographic procedure specifically aimed at small heart anomalies' discovery. The study resulted in assessment of the marfanoid habitus among the young persons depending on sex and selected threshold of Dolichostenomelia and arachnodactylia coefficients. It shows that the use of the diagnostic algorithms offered by official Russian recommendations leads to the identification of this state of nearly half practically healthy young male persons. This could cause a hyper-diagnostics among this contingent group. The girls with marfanoid habitus demonstrate alternated morfometrical parameters -greater A MARFANOID HABITUS DYAGNOSTICS' ALGORITHM AND MORFO-FUNCTIONAL HEART SINGUL ARITIES RELEVENT TO THIS DYSPL ASTIC PHENOT YPE

The aim of the research was the study of bone mineral density (BMD) and activity laboratory markers of bone metabolism in juniors with power shortages and marfanoid habitus (MH). Materials and methods: Twenty 119 males are underweight aged 18 to 25 years old (average age of 20.4 ± 1.5 years). All surveyed was conducted anthropometric, phenotypical, Echocardiography study to identify the mitral valve prolapse (MVP), laboratory examination of the bone forming token (Osteocalcin, alkaline phosphatase), and the dissolution of bone tissue (β-CrossLaps), Dual-energy X-ray densitometry (L1-L4). Results: Revealed a significant reduction in BMD females with MH as compared to control (Z-criterion –1.23 ± 0.73 and 0.34 ± 0.80, STD, respectively, p < 0.00001). BMD significant decrease (–1.5 STD) found a third of individuals with MH and not seen in the control group, p = 0.01. When assessing young BMD depending on the severity of MVP statistically reliable differences had been received. At the same time that boys with MVP in conjunction with signs MH is characterized by the lowest BMD values. In the analysis of laboratory parameters revealed a significant increase in Osteocalcin and alkaline phosphatase in the Group of persons with MH, indicating bone forming activity in these patients. At the same time, for people with MH is characterized by increasing the level of β-CrossLaps (marker of the dissolution of bone tissue). With the increased activity of the dissolution of bone tissue associated bone such signs as dolyhostenomelia, deformations of thorax and arachnodaktylia. Conclusion: bone signs dysembriogenesis involved in the diagnostic algorithm MH, contributes to the abnormal formation of bone tissue in these patients. For them is characterized by activation synthesis and dissolution of bone tissue, reducing BMD.

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