The role of gene polymorphism in hemostatic disorders in children undergoing cardiac surgery

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OBJECTIVE

To evaluate the prevalence of hemostasis gene polymorphism and their role in thrombotic events in children undergoing cardiac surgery.

MATERIAL AND METHODS

A prospective single center case-controlled study included 179 pediatric patients after on-pump cardiac surgery. Thrombotic events occurred in 42 patients (the main group). Polymorphism of genes F2_20210_G>A, F5_1691_G>A, F7_10976_G>A, FGB_455_G>A, ITGA2_807_C>T, ITGB3_1565_T>C, PAI-1 was investigated. Serum concentration of plasminogen activator inhibitor 1 (PAI-1) was estimated. We analyzed thrombotic events considering color changes, limb swelling, catheter dysfunction and clot verification in vena cava system, as well as blood flow velocity changes according to Doppler ultrasound data.

RESULTS

Serum PAI-1 concentrations were 44.99±14.52 ng/ml and 25.93±16.02 ng/ml, respectively (p=0.0001; R=0.47). Incidence of heterogeneous mutations F7_10976_G>A was 41.07% and 21.14%, respectively (R=0.207). The Spearman’s rank correlations with regards to probability of thrombotic events for F13 were low (R= –0.047), ITGA2 — R= –0.055, ITGB3 — R= –0.187.

CONCLUSION

Analysis provides obvious prospects for further research of causes of thrombotic events and their incidence in accordance with genetic predisposition and other risk factors in neonatal and pediatric patients with congenital heart disease.

Keywords:

thrombotic events

gene polymorphism

congenital heart disease

risk factors

Authors:

Karakhalis N.B.

Research Institute-Ochapovsky Regional Clinical Hospital No. 1;
Kuban State Medical University

SPIN RSCI: 7988-6109
Scopus AuthorID: 35748920700
ORCID: 0000-0002-6266-4799

Received:

03.10.2023

Accepted:

19.01.2024

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