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THE FREQUENCY OF THROMBOTIC COMPLICATIONS AND FEATURES OF GENOTYPES OF POLYMORPHIC MARKERS OF HEMOSTASIS GENES IN CHILDREN WITH NONCOMPACT CARDIOMYOPATHY
Author(s) -
Е. Н. Басаргина,
Malika K. Umarova,
Kirill Savostyanov,
Yu. V. Derevnina,
И. Е. Смирнов
Publication year - 2019
Publication title -
rossijskij pediatričeskij žurnal
Language(s) - English
Resource type - Journals
eISSN - 2413-2918
pISSN - 1560-9561
DOI - 10.18821/1560-9561-2017-20-3-139-144
Subject(s) - medicine , genotype , hemostasis , thrombosis , cardiology , gene , dilated cardiomyopathy , cardiomyopathy , gastroenterology , heart failure , genetics , biology
Noncompaction cardiomyopathy (NCMP) is characterized by the anomalous myocardium structure and various types of cardiac remodeling, in some cases it is accompanied by thrombotic complications. Preconditions for thrombosis in the disease are unknown, as also there are differences in thrombosis rates between NCMP and other cardiomyopathies, similarly accompanied by the chronic heart failure and analogous remodeling phenotypes. Aim of study is to reveal the difference in the rate of thrombosis in NCMP and dilated cardiomyopathies (DCMP) in children, and to define differences in the frequency of different genotypes of polymorphic markers in an array of hemostasis genes in the two cardiomyopathies. Methods. There was executed a prospective-retrospective cohort study, included patients from the Cardiac Department of the National Scientific and Practical Center of Children's Health from October 2011 to May 2015. The presence of NCMP was established by echocardiography, alleles and genotypes of polymorphic markers of hemostasis and folate cycle genes were determined by polymerase chain reaction in real-time mode. Results. Thrombotic complications in NCMP children were observed more often than in DCMP cases. There were no differences between NCMP and DCMC patients in the frequency of the polymorphic markers c.1691G>A of the F5 gene (p=0.61) , c.20210G>A of the F2 gene (p=1.0) , c.1565T> C of the ITGB3 gene (p=0.32) , 5G(-675)4G of PLANH1 gene (p=0,52) , G(-455)A of FGB gene (p=0.82) , c.677C>T of MTHFR gene (p=0.11). Conclusion Thrombotic complications in NCMP children occur rather more often than in DCMP cases, studied polymorphic markers of the hemostasis and folate cycle genes do not cause this difference, and this requires continuation of the study.

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