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.
Mitral valve phenotype in vascular Ehlers Danlos syndrome
