Abstract
Aim. To analyze the relationships between the carriage of polymorphic variants in the folate metabolism genes and the development of thrombotic complications in patients with single ventricle (SV) during surgical treatment.Material and Methods. A total of 102 children with SV were examined in the performed research. All patients underwent surgical hemodynamic correction of congenital heart disease (CHD). According to a retrospective chart review, thrombosis was diagnosed in 12.7 % of the examined patients with SV. The analysis of polymorphism in the MTR A2756G enzyme gene revealed significant differences between the groups of patients with a history of thrombosis and without it.Results. We found that the risk of developing thrombosis was associated with the carriage of homozygous genotype 2756AA of the MTR enzyme gene (OR = 11.21; 95% CI: 1.39–89.96; p = 0.023).
Highlights
A total of 102 children with single ventricle (SV) were examined in the performed research
Цель исследования: проанализировать связь носительства полиморфных вариантов генов фолатного обмена с развитием тромботических осложнений у пациентов с Функционально единственный желудочек сердца (ФЕЖС) в ходе хирургического лечения
(Med.), Head of the Department of Cardiac Surgery No 2, Cardiology Research Institute, Tomsk National Research Medical Centre, Russian Academy of Sciences
Summary
A total of 102 children with SV were examined in the performed research. All patients underwent surgical hemodynamic correction of congenital heart disease (CHD). According to a retrospective chart review, thrombosis was diagnosed in 12.7 % of the examined patients with SV. The analysis of polymorphism in the MTR A2756G enzyme gene revealed significant differences between the groups of patients with a history of thrombosis and without it. Исследования о распространенности генетических полиморфизмов ферментов фолатного обмена, сопряженных с риском развития тромботических состояний, и особенностях их фенотипического проявления у детей освещены недостаточно [2,3,4], особенно это касается пациентов с сердечно-сосудистыми заболеваниями [5, 6]. Целесообразность назначения молекулярно-генетического тестирования фолатного обмена в клинической практике остается спорной, что в большинстве случаев объясняется недостаточным числом исследований риска развития тромботического процесса с наличием определенных маркеров в генотипе пациента. Цель исследования: проанализировать связь носительства полиморфных вариантов генов фолатного обмена с развитием тромботических осложнений у пациентов с ФЕЖС в ходе хирургического лечения
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