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• W4387249849 abstract "SESSION TITLE: Cardiovascular Disease Case Report Posters 19 SESSION TYPE: Case Report Posters PRESENTED ON: 10/10/2023 09:40 am - 10:25 am INTRODUCTION: The association of thrombophilia and coronary arterial disease (CAD) is currently under investigation. Studies have demonstrated that in those with thrombophilia mutations, CAD is observed more frequently. [1] Furthermore, meta-analysis have demonstrated that G20210A prothrombin gene mutations may represent a separate risk factor for the development of CAD. [2] We describe a unique case of a patient recently discovered to be heterozygous for the G20210A prothrombin gene variant with a history of myocardial infarction and coronary arterial bypass graft at the age of 30. CASE PRESENTATION: The patient is a 38 year-old Caucasian female with a history of venous thrombosis, CAD status post coronary artery bypass graft (CABG) of LIMA to LAD, hyperlipidemia, asthma and myocardial infarction who presented to hematology for a thrombophilia evaluation. She was referred for further work-up of thrombophilia in the setting of her unusual history of unprovoked deep vein thrombosis (DVT) and early CAD. A thrombophilia work-up was positive for heterozygous Prothrombin G20210A variant, cardiolipin antibody IgM, and HLAB-27. Otherwise, Factor V, Antithrombin, Protein C and S, JAK 2, beta-2 microglobulin, a lupus anticoagulant profile, ESR, CRP, and ANA were within normal limits. Her most recent transthoracic echocardiogram demonstrated an EF of 40-45% with left ventricular hypertrophy. Left heart catheterization was positive for chronic mid segment stenosis of the LAD and ABI testing demonstrated peripheral artery disease of the left lower extremity. DISCUSSION: Our patient was started on Apixaban for anticoagulation provided her history of unprovoked deep venous thrombosis as well as Aspirin by her cardiologist and encouraged to adhere to a vegan diet and regular exercise regimen. Given our patient's course, her presentation with an early MI and ongoing research into association of thrombophilia as a risk factor for CAD, it may be valuable to perform genetic screening in individuals with a significant family history for Inherited thrombophilia. (1) Certain tests that should be ordered for thrombophilia disorders could include Prothrombin, Anticardiolipin Antibody, Beta 2 Glycoprotein, Factor V Leiden, Protein C and S levels. Management for these patients should include adherence to a vegan or plant based diet low in saturated fats, management of dyslipidemia with LDL lowering medications as well as lifelong anticoagulation for patients with a history of unprovoked thrombosis. (2) The risks and benefits of starting anticoagulation in those without a prior thrombus but at risk for thrombosis should be discussed with a hematologist. In conclusion, we recommend thrombophilia testing be performed in all young patients with a history of thrombosis and be considered in those with a family history of early CAD. CONCLUSIONS: In conclusion, we report a case of a patient with a history CABG, who presented with an unprovoked DVT and was found to have a prothrombin gene mutation. This case highlights the increased risk of DVT and the potential contribution of prothrombin gene mutation to the development of thrombotic events and association with CAD. REFERENCE #1: 1. Ercan B;Tamer L;Sucu N;Pekdemir H;Camsari A;Atik U; Factor Vleiden and Prothrombin G20210A Gene Polymorphisms in Patients with Coronary Artery Disease. Yonsei Medical Journal, U.S. National Library of Medicine, https://pubmed.ncbi.nlm.nih.gov/18452260/. REFERENCE #2: 2. Burzotta, F, et al. G20210A Prothrombin Gene Polymorphism and Coronary Ischaemic Syndromes: A Phenotype-Specific Meta-Analysis of 12 034 Subjects. Heart, BMJ Publishing Group Ltd, 1 Jan. 2004, https://heart.bmj.com/content/90/1/82.short. DISCLOSURES: No relevant relationships by Mariam Qazi No relevant relationships by Christos Sarantopoulos" @default.
• W4387249849 created "2023-10-03" @default.
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• W4387249849 date "2023-10-01" @default.
• W4387249849 modified "2023-10-03" @default.
• W4387249849 title "A NEWLY DISCOVERED HETEROZYGOUS PROTHROMBIN G20210A GENE MUTATION IN A YOUNG PATIENT WITH DEEP VEIN THROMBOSIS AND PRIOR NSTEMI STATUS POST CORONARY ARTERY BYPASS GRAFT" @default.
• W4387249849 doi "https://doi.org/10.1016/j.chest.2023.07.345" @default.
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