Assessment of Genetic Variants Linked to Susceptibility to Mechanical Prosthetic Valve Thrombosis.

Autor: Kalkan S; Department of Cardiology, Basaksehir Cam Sakura City Hospital, Istanbul, Türkiye. Electronic address: semihby1@gmail.com., Ozan Gürsoy M; Department of Cardiology, Health Scıences Unıversıty İzmir Tepecik Educatıon and Research Hospital, Izmir, Türkiye., Güner A; Department of Cardiology, Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Training and Research Hospital, Istanbul, Türkiye., Gürsoy S; Division of Pediatric Genetics, Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, İzmir, Türkiye., Kalçık M; Department of Cardiology, Faculty of Medicine, Hitit University, Çorum, Türkiye., Geçkinli BB; Department of Medical Genetics, Marmara University School of Medicine, Istanbul, Türkiye., Delil K; Department of Medical Genetics, Marmara University School of Medicine, Istanbul, Türkiye., Ateş EA; Department of Medical Genetics, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Türkiye., Erdogan EG; Department of Medical Genetics, Kartal Training and Research Hospital, Istanbul, Türkiye., Canbek S; Department of Medical Genetics, Umraniye Training and Research Hospital, Istanbul, Türkiye., Bayam E; Department of Cardiology, Koşuyolu Kartal Heart Training and Research Hospital, Istanbul, Türkiye., Aykan AÇ; Department Cardiology, Kahramanmaras Sütcü Imam University Faculty of Medicine, Kahramanmaras, Türkiye., Aytürk M; Department of Cardiology, Koşuyolu Kartal Heart Training and Research Hospital, Istanbul, Türkiye., Gündüz S; Department of Cardiology, Faculty of Medicine, Bahcesehir University, Istanbul, Türkiye., Özkan M; Department of Cardiology, Koşuyolu Kartal Heart Training and Research Hospital, Istanbul, Türkiye; Division of Health Sciences, Ardahan University, Ardahan, Türkiye.
Jazyk: angličtina
Zdroj: The American journal of cardiology [Am J Cardiol] 2025 Jan 01; Vol. 234, pp. 22-29. Date of Electronic Publication: 2024 Oct 23.
DOI: 10.1016/j.amjcard.2024.10.014
Abstrakt: Prosthetic valve thrombosis (PVT) is a critical and life-threatening condition driven by multifactorial etiologies, including genetic predispositions. The study was designed as a single-center retrospective manner. Echocardiographic features and genetic test including factor II/prothrombin (G20210A), factor V Leiden (G1691A), factor V R2 (A4070G), apolipoprotein (Apo) B-100 (G10708A), ApoE (C112R), ApoE (R158C), methylenetetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C, factor XIII G103T (V34L), β-fibrinogen (455G>A), PAI-1 4G/5G, and HPA-1 GPIIIa (T196C) genotyping variations were assessed. We performed genetic tests on 175 patients with PVT (biologically women [n = 124, 70.9%], with a mean age of 49.8 ± 13.1 years) and 101 patients (biologically women [n = 57, 56.4%], with a mean age of 54.7 ± 13.6 years) without thrombus formation. The thrombosis group was significantly younger compared with controls (p = 0.004). The percentage of patients with mechanical aortic valves was significantly lower in the thrombosis group compared with controls (22.3% vs 34.7%, p = 0.025). A significant difference was observed between the thrombosis and control groups regarding the genotype ratios of factor II/prothrombin (G20210A) (heterozygous, 6.8% vs 1%, p = 0.043) and HPA-1 GPIIIa (T196C) (homozygous mutant, 7.8% vs 0%, p = 0.034). In addition, there was a significant association of heterozygous MTHFR (A1298C) variation with obstructive thrombosis compared with nonobstructive thrombosis (46.9% vs 29.2%, p = 0.046). In conclusion, this is the first study to report a potential association between genetic variants, including HPA-1 GPIIIa (T196C), factor II/prothrombin (G20210A), MTHFR (A1298C), and PVT, necessitating extensive further research and additional clinical consideration.
Competing Interests: Declaration of competing interest The authors have no competing interests to declare.
(Copyright © 2024 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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