Introduction. Marfan syndrome is a hereditary connective tissue disorder caused by impaired synthesis of a fibrillin protein. This results in a broad spectrum of clinical manifestations, in particular cardiovascular, skeletal and ocular features. Marfanoid phenotype is defined as manifesting some features of Marfan syndrome, but not fulfilling the criteria of the diagnosis. Abnormal synthesis of the fibrillin is the reason of impairment of elastic fibers. This effects in increasing arterial stiffness, which can be characterized by pulse wave velocity (PWV) and augmentation index (AI). Material and methods. Study included 72 patients suspected of Marfan syndrome. On the basis of modified Ghent criteria they were divided into two groups: 37 patients were diagnosed with Marfan syndrome and 35 patients were classified as marfanoid phenotype. Research included also 36 healthy controls. PWV and AI values were obtained by applanation tonometry method. Results. Mean PWV is higher in Marfan syndrome rather than marfanoid phenotype and healthy controls. The lowest mean value of PWV was found among patients with marfanoid phenotype. The highest mean AI value was presented in Marfan syndrome. The lowest mean AI was obtained in a group with marfanoid phenotype. Conclusions. Patients with Marfan syndrome are presenting higher values of PWV and AI than patients with marfanoid phenotype or healthy controls. The lowest values of PWV and AI were obtained among patients with marfanoid phenotype. Patients like these are taller than the others, however, their arterial walls most likely have correct structure, which causes beneficial hemodynamic conditions.
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