Zhurayev R. Marfan syndrome: clinical and pathomorphological features and genetic causes

Українська версія

Thesis for the degree of Doctor of Science (DSc)

State registration number

0520U101597

Thesis Registration Form

0520U101597.pdf

Applicant for

Specialization

  • 14.01.11 - Кардіологія

30-10-2020

Specialized Academic Board

Д 26.003.08

Bogomolets National Medical University

Essay

The dissertation is devoted to the study of the course of Marfan syndrome (MS) in patients of the Ukrainian population by means of genetic, pathomorphological, clinical and anthropometric methods in order to optimize the diagnosis, predict the course for preventing complications, improving the quality and increasing life expectancy of these patients. For the first time a genetic screening of patients with MS in the Ukrainian population was performed using the next-generation sequencing panel containing 14 genes (FBN1, TGFBR1, TGFBR2, NOTCH1, FLNA, EFEMA10, SLEM210 MYH11, COL3A1, SMAD3, ACTA2) involved in the formation of thoracic aortic aneurysm in patients with hereditary connective tissue dysplasia and aortic lesions. Characteristics of mutations of the fibrillin-1 gene (FBN1) in patients with MS with their diagnostic and prognostic value, correlation with clinical parameters were studied.

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Files

autoreferat-aref.pdf

dis.pdf

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