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.
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.
Asthenic type of constitution and low body weight are traditionally associated with hereditary disorders (dysplasia) of connective tissue (HDCT). Another specific signs of HDCT is dolichostenomelia (skeletal imbalances). The prevalence of signs of dysembryogenesis and skeletal imbalances in young people depending on sex, type of constitution and body mass deficiency have not been previously assessed. Materials and methods. We examined 967 practically healthy people aged 18 to 25 years (330 boys and 637 girls) and 119 boys with a diagnosis of body weight deficiency by help general examination, phenotypic and anthropometric examinations. Results. Most bone signs of dysembryogenesis significantly often detected in young men: keel-shaped chest deformity (4% vs 1%, p 0.01) and funnel chest deformity (19% vs 9%, p 0.01) deformations of thorax, high palate (39% vs 28%, p 0.01), the growth of teeth (36% vs 19%, p 0.01) and dolichostenomelia. Girls are characterized by a high frequency of joint hypermobility (50% vs 24%) and atrophic striae (30% vs 14%, p 0.01). The bone signs (symptoms of arachnodactyly and chest deformities) detected more often in people with body weight deficiency, and the skin signs and joint hypermobility revealed more often in young people with normotrophy. Comparison of the frequency of signs of dysembryogenesis and skeletal imbalances in groups with asthenic and normal constitution did not reveal differences. All of external signs were found with equal frequency in individuals with different types of physique. Conclusions. Body weight deficiency in young men is closely related to bone signs of dysembryogenesis, while the asthenic type of constitution is not a reliable marker of connective tissue defect.
For many hereditary connective tissue disorders (HCTD), especially Marfan syndrome, remodeling of the heart and main vessels is described, which is manifested by a decrease in the systolic function of the left ventricle and expansion of the thoracic aorta. Evaluation of morphometric characteristics of the heart and main vessels in patients with other HCTD, in particular marfanoid habitus (MH) has not been previously carried out. Materials and methods. Weexamined 90 young men and 74 young women between the ages of 18 to 25 years, 111 patients older age groups with stable over coronary heart disease (mean age 64.66.2 years) and 9 patients with verified Marfan syndrome (mean age 27.99.3years). All survey phenotypic and performed anthropometric survey identifying bone signs of dysembryogenesis as well as Echocardiography study on standard protocol. The results.Patients with MH as compared with control group revealed a relatively larger diameter of aortic root (30.44.7 vs 28.03.6 mm,p= 0.03) and the ascending aorta (26.64.9 vs 24.63.2 mm,p= 0.05). Also young with MH turned out to be significantly thicker myocardium of left ventricular posterior wall (8.30.8 vs 7.71.1 mm,p= 0.02) and interventricular septum (8.81.2vs 8.21.1mm,p= 0.04). When performing correlation analysis identified reliable positive correlation between such highly specialized bone signs as high palate (r= 0.31), infundibular deformation of the chest (r= 0.43), arachnodactyly (r= 0.45) andZ-test (p 0.05 for all). Expansion of the aorta (Z-criterion 2.0) have found 24% of older patients with MH. Conclusion.Inpatients with MH revealed significant structural changes of heart and main vessels which are progredient character thickening of the left ventricular myocardium and expansion of the aortic root.
Cardiac arrhythmias are frequent manifestations of hereditary connective tissue disorders (HCTD). Such HCTD as Marfan syndrome (MS), the primary mitral valve prolapse are characterized by frequent supraventricular and ventricular extrasystoles, prolonged PQ and QT interval, reduced heart rate variability and frequent findings of other predictors of heart arrhythmias. Cardiac arrhythmias as well as their predictors in patients of young age with marfanoid habitus (MH) were not previously evaluated. Materials and methods. A total number of 238 patients of young age were examined. All patients received phenotypic and anthropometric screening and Holter ECG. Cardiac arrhythmias, duration of QT interval (QTc), QT dispersion (QTd), heart rate variability and heart rate turbulence were estimated. Results for young people with MH as compared with the control group are characterized by frequent detection of paired (42.6% vs 9.7%, p= 0.00001), group (17.0% vs 4.2%, p = 0.01) supraventricular extrasystoles, ventricular extrasystoles in pathological quantity (10.6% vs 1.4%, p = 0.02). Pathological value of heart rate turbulence is detected significantly more frequently in individuals with MH. During evaluation of variability a significant decrease in all spectral (HF, LF, VLF), as well as most statistical (SDNN, pNN50) indicators was revealed. Patients with MH are characterized by prolonged QT interval (QTc threshold in 480 ms overcomes 21% of boys with MH, p = 0.00001) and increase the variance of the QT interval (threshold of 50 ms overcomes 37.5% of girls with MH, p = 0.0004).
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