Diagnostics of inherited connective tissue disorders: achievements and future directions

• Published in: Rossiĭskiĭ kardiologicheskiĭ zhurnal no. 4; pp. 38 - 43
• Main Authors: Zemtsovskyi, E. V., Malev, E. G., Reeva, S. V., Luneva, E. B., Parfenova, N. N., Lobanov, M. Yu, Belyaeva, E. L., Vyutrikh, E. V., Timofeev, E. V., Belousova, T. I., Bergmane, O. A., Zaripov, B. I., Korshunova, A. L., Pankova, I. A.
• Format: Journal Article
• Language: English; Russian
• Published: FIRMA «SILICEA» LLC 01.08.2013
• Subjects: inherited connective tissue disorders; inherited dysplastic syndromes and phenotypes; marfanoid habitus; mitral valve prolapse
• ISSN: 1560-4071; 2618-7620
• DOI: 10.15829/1560-4071-2013-4-38-43

The paper reviews general factors underlying the variety of clinical manifestations of inherited connective tissue disorders (ICTD). The authors make an attempt to harmonise the existing ICTD terminology with the standard international classification. It is proposed to use the Russian term “dysplasia” as a synonym of ICTD and to divide all ICTD into inherited syndromes (IS) and dysplastic phenotypes. An example of fibrillinopathies is used to consider the clinical polymorphism and genetic heterogeneity of IS. The clinical significance of Marfanoid habitus as a phenotype is also discussed.