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• W4387252023 abstract "SESSION TITLE: Cardiovascular Disease Case Report Posters 1 SESSION TYPE: Case Report Posters PRESENTED ON: 10/09/2023 12:00 pm - 12:45 pm INTRODUCTION: 5,10-methylenetetrahydrofolate reductase (MTHFR) is a crucial enzyme in the folic acid cycle. A common mutation in the MTHFR gene (C677T) results in a thermolabile enzyme that is more likely to increase plasma homocysteine (tHcy) levels, which is a risk factor for coronary heart disease. The risk of coronary artery disease in the setting of MTHFR C677T mutations has been inconclusive. Recently, a meta-analysis of studies on the subject concluded that MTHFR C677T mutations do not increase the risk of developing coronary heart disease without the presence of low levels of folate. All of this leads to a vague picture concerning the relationship between the MTHFR C677T, tHcy, folate and adverse cardiovascular events. We present the case of premature myocardial infarction presenting in the setting of MTHFR C677T variant with no risk factors other than the mutation. CASE PRESENTATION: A 45-year-old female with a past medical history of hypertension, asthma, and methylenetetrahydrofolate reductase (MTHFR) homozygous 677T mutation presented to the emergency department with central chest pain radiating to the left upper extremity 30 minutes prior to presentation. She denies having a history of smoking, alcohol, or drugs. Her family history was unremarkable; she denies having any relatives with premature myocardial infarctions. The patient was tested for the MTHFR mutation after recurrent history of stillbirth. Upon arrival, her physical exam was unremarkable. Blood work was insignificant except for an elevated troponin of 35, which trended up to 4,189 ng/L. Her total cholesterol was 152 mg/dL, HDL 50 mg/dL, and calculated LDL of 85 mg/dL. Serum folate level was within normal at 401 ng/ml, and homocysteine level was within normal at 9.2 µmol/L. Cardiac catheterization showed a normal ejection fraction of 50 to 55% and was significant for a 100% left anterior descending artery stenosis, which was stented. Her hospital stay was unremarkable, and the patient was discharged home. DISCUSSION: Recent meta-analyses have concluded that low folate levels are associated with an increased risk of coronary artery disease (CHD). However, the interpretation of these findings is complicated by variation in the assays used to measure folate levels. In one meta-analysis, the elevated risk of CHD was only evident in patients with low folate levels. Additionally, evidence exists that interventions aimed at lowering homocysteine levels or supplementing folate do not reduce the incidence of myocardial infarction. This supports the hypothesis that impaired folate metabolism is not the sole cause of CHD. In our case, the patient presented with premature myocardial infarction without significant predisposing factors and normal folic acid and tHcy levels. This challenges the hypothesis that impaired folate metabolism is the culprit for CHD. We hypothesize that MTHFR gene mutations have a more complex relationship with the development of CHD. CONCLUSIONS: MTHFR gene mutations by themselves, especially when homozygous, can be responsible for coronary artery disease and premature myocardial infarction. Further studies are needed to delineate the relationship of that gene mutations to the risk of developing coronary artery diseases regardless of the elevations in homocysteine or the deficiency of folic acid. REFERENCE #1: Klerk M, Verhoef P, Clarke R, et al. MTHFR 677C-->T polymorphism and risk of coronary heart disease: a meta-analysis. JAMA. 2002;288(16):2023-2031. doi:10.1001/jama.288.16.2023 REFERENCE #2: Lewis SJ, Ebrahim S, Davey Smith G. Meta-analysis of MTHFR 677C->T polymorphism and coronary heart disease: does totality of evidence support causal role for homocysteine and preventive potential of folate?. BMJ. 2005;331(7524):1053. doi:10.1136/bmj.38611.658947.55 REFERENCE #3: Klerk M, Verhoef P, Clarke R, et al. MTHFR 677C-->T polymorphism and risk of coronary heart disease: a meta-analysis. JAMA. 2002;288(16):2023-2031. doi:10.1001/jama.288.16.2023 DISCLOSURES: No relevant relationships by Falah Abu Hassan No relevant relationships by YASIR AL HILLI No relevant relationships by Mazin Saadaldin No relevant relationships by Andrea Zapata" @default.
• W4387252023 created "2023-10-03" @default.
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• W4387252023 date "2023-10-01" @default.
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• W4387252023 title "THE FOLATE PARADOX: CHALLENGING THE ASSOCIATION BETWEEN FOLATE, HOMOCYSTEINE LEVELS, AND CHD IN MTHFR" @default.
• W4387252023 doi "https://doi.org/10.1016/j.chest.2023.07.448" @default.
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