INHERITED CONNECTIVE TISSUE DISORDERS.PROBLEMS OF DIAGNOSIS AND CLASSIFICATION

  • Эдуард Вениаминович Земцовский Saint-Petersburg State Pediatric Medical University 194100, Saint-Petersburg, Litovskaya st., 2
  • Евгений Владимирович Тимофеев Saint-Petersburg State Pediatric Medical University 194100, Saint-Petersburg, Litovskaya st., 2
  • Елена Валентиновна Вютрих Saint-Petersburg State Pediatric Medical University 194100, Saint-Petersburg, Litovskaya st., 2
  • Эдуард Геннадьевич Малев Federal North-West Medical Research Centre 197341, Saint-Petersburg, Russia, Akkuratova st., 2
  • Светлана Вениаминовна Реева Saint-Petersburg State Pediatric Medical University 194100, Saint-Petersburg, Litovskaya st., 2
  • Екатерина Борисовна Лунева Federal North-West Medical Research Centre 197341, Saint-Petersburg, Russia, Akkuratova st., 2
  • Нина Николаевна Парфенова Saint-Petersburg State Pediatric Medical University 194100, Saint-Petersburg, Litovskaya st., 2
Keywords: inherited disorders (dysplasia) of connective tissue, mitral valve prolapse, aortic aneurysm, marfanoid habitus

Abstract

In the review the literature and own data about the current state of knowledge about hereditary disorders (dysplasia) of connective tissue and the possibilities for timely diagnosis of its most common forms-prolapsed mitral valve and aortic aneurysms. See the Group’s own classification of deviations related to connective tissue disorders is the most common hereditary syndrome-primary mitral valve and some dysplastic phenotypes, among which the most common and studied is the marfanoid habitus. Detailed diagnostic algorithm expansion of the aorta and named for the main hereditary syndromes, Marfan syndrome, in addition to the existence of which it is necessary to remember in case of expansion of the aorta. It is shown that in identifying the primary mitral valve prolapse cases should be allocated to the so-called classical prolapse, with thickening of the mitral valve cusps of myxomatosis and the increased risk of trombo-embolic complications and availability of fibro-elastin deficiency, leading to thinning and separation of chords. The analysis of reasons for overdiagnosis of primary mitral valve prolapse, diagnostic algorithms are considered major Dysplastic phenotypes, among which a special place occupies a marfanoid habitus. Algorithms of diagnosing various dysplastic phenotypes.

Published
2020-05-21
How to Cite
Земцовский, Э. В., Тимофеев, Е. В., Вютрих, Е. В., Малев, Э. Г., Реева, С. В., Лунева, Е. Б., & Парфенова, Н. Н. (2020). INHERITED CONNECTIVE TISSUE DISORDERS.PROBLEMS OF DIAGNOSIS AND CLASSIFICATION. Medicine: Theory and Practice, 2(2), 3-8. Retrieved from https://ojs3.gpmu.org/index.php/med-theory-and-practice/article/view/568
Section
Статьи