INHERITED CONNECTIVE TISSUE DISORDERS: CURRENT STATE OF THE PROBLEM

Abstract

In the review there is literature data on the development of hereditary disorders (dysplasia) connective tissue (HDCT) in Russia and abroad, and the current view of the problem diagnosis and classification. Detailed Marfan syndrome diagnostic algorithm in temporal aspect describes the modern view of diagnostic criteria and genetic markers of the disease. The basic algorithms of detection of hereditary connective tissue violations (used in our country) are discussed and critically analyzed. Comparative analysis of the information content of the recommendations of the Russian society of Cardiology (2009, 2013) and Russian scientific medical society of physicians (2016) was performed. New classification of HDCT was offered, and highlighting dysplastic phenotypes (DP) are characterized by signs of the involvement of the skeletal system - marfanoid habitus, marfanoid phenotype, mitral valve prolapse, combined with signs of the involvement of the skeletal system. Also the predictive importance of DP, characterized by signs of the involvement of the skeletal system in identifying signs of heart rhythm disorders, autonomic dysfunction, morphofunctional characteristics of heart was shown.