Frequency of hereditary prothrombotic risk factors in patients with Down Syndrome

Objective: Down Syndrome (DS) is defined as chromosome 21 trisomy and associated with cardiovascular system diseases. We aimed to study inherited thrombophilia genes (MTHFR A1298C, MTHFR C677T, Factor II G20210A, V Leiden G1691A, Cambridge G1091C, XIII, APOB, ITGB3, FVHR2, FGB, PAI-1 ACE) in patients DS. Materials Methods: A total of 53 DS (32 male female) were included the study. Demographical, laboratory clinical features cases recorded. 12-lead Electrocardiogram (ECG), transthoracic echocardiography evaluated. Results: The developmental defect findings high. 39.6% had both heterozygous C677T A1298C carriers, 18.9% homozygous 17% G1691A 43.4% 4G/4G 34% 4G/5G variation carriers for PAI, 22.7% FactorXIII 49.1% ins/del 37.7% del/del ACE. All at least one and/or compound variations thrombophilia. Conclusions: have a high risk thrombosis-related It may be said that average life expectancy individuals increased by precautions (related medical, social, lifestyle, etc.) reduce complications hereditary