Endothelial Nitric Oxide Synthase T-786C Mutation, Prothrombin Gene Mutation (G-20210-A) and Protein S Deficiency Could Lead to Myocardial Infarction in a Very Young Male Adult
INTRODUCTION: Myocardial infarction is a rare medical event in young people. The main reasons include congenital coronary abnormalities, coronary artery spasm, and coronary thrombosis due to hypercoagulable states (hereditary and acquired).
AIM: We present a case of a young male adult with myocardial infarction caused by a combination of gene mutations and anticoagulation protein deficiency.
CASE PRESENTATION: A 19 years old young man was admitted to our hospital complaining of chest pain during the last two weeks. The patient did not have any known cardiovascular risk factors, except a positive family anamnesis. Subacute inferior nonST segment myocardial infarction was diagnosed according to the patientâ€™s history, electrocardiographic and laboratory findings. Coronary angiography revealed suboclusive thrombus in the proximal, medial and distal part of the right coronary artery (TIMI 2). Percutaneous coronary intervention was performed. Anticoagulant and antiagregant therapy (heparin, acetilsalicilic acid and clopidogrel) according to protocol was started. The hospital stay was uneventful. Homozygous endothelial nitric oxid synthase (eNOS) T-786-C mutation, heterozygote prothrombin gene mutation (G-20210-A), and protein S deficiency were verified from the thrombophilia testing. Other trombophilic tests were normal. Three months after discharge from hospital another coronary angiography was performed. It revealed normal coronary arteries. Four years after the attack, the patient is free of symptoms and another cardiovascular event.
CONCLUSION: Combination of genetic mutations and anticoagulation protein deficiency could be a reasonable cause for myocardial infarction in a very young male adult without any other cardiovascular risk factors.
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Doggen CJ, Cats VM, Bertina RM, Rosendaal FR. Interaction of coagulation defects and cardiovascular risk factors: increased risk of myocardial infarction associated with factor V Leiden or prothrombin 20210A. Circulation. 1998;97(11):1037.
Guilland JC, Favier A, Potier de Courcy G, Galan P, et al. Hyperhomocysteinemia: an independent risk factor or a simple marker of vascular disease? Pathol Biol. 2003;51(2):101-10.
Muniz Caldas CA, Freire de Carvalho J. Cardiovascular comorbidities in antiphospholipid syndrome. Expert Rev Clin Immunol. 2013;9(10):987-90.
Lindhoff-Last E, Luxembourg B. Evidence-based indications for thrombophilia screening. Vasa. 2008;37(1):19-30.
Kim RJ, Becker RC. Association between factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase C677T mutations and events of the arterial circulatory system: a meta-analysis of published studies. Am Heart J. 2003;146(6):948-57.
Lalouschek W, Schillinger M, Hsieh K, et al. Matched case-control study on factor V and the prothrombin G20210A mutation in patients with ischemic stroke/transient ishemic attack up to age of 60 years. Stroke. 2005;36(7):1405.
Reitsma P.H., Rosendaal F.R. Past and future of genetic research in thrombosis. J Thromb Haemost. 2007;5(Suppl 1):264-9.
Mark Y. Chan, Felicita A., Richard B. Hypercoagulable States in Cardiovascular Disease. Circulation. 2008;118:2286-2297.
ESC guidelines for the Management of Acute Coronary Syndromes (ACS) in patients presenting without persistent ST-segment elevation. European Heart Journal. 2011;32:2999â€“3054.
Toda N, Tanabe S, Nakanishi S. Nitric oxide-mediated coronary flow regulation in patients with coronary artery disease: recent advances. Int J Angiol. 2011;20(3):121-34.
Glueck CJ, Valdes A, Bowe D, Munsif S, et al. The endothelial nitric oxide synthase T-786c mutation, a treatable etiology of Prinzmetal's angina. Transl Res. 2013;162(1):64-6.
Giorgio Ghilardi, Maria Luisa Biondi, Marco DeMonti, et al. Independent Risk Factor for Moderate to Severe Internal Carotid Artery Stenosis:T786 Mutation of the Endothelial Nitric Oxide Synthase Gene. Clinical Chemistry. 2002;48:989-993.
Toda N, Toda H. Nitric oxide-mediated blood flow regulation as affected by smoking and nicotine. Eur J Pharmacol 2010; 649(1-3):1-13.
Gian Paolo Rossi, Giuseppe Maiolino, Mario Zanchetta, et al.The T-786C Endothelial Nitric Oxide Synthase Genotype Predicts Cardiovascular Mortality in High-Risk Patients. J Am Coll Cardiol. 2006;48:1166â€“74.
Maria Satra, Maria Samara, Greta Wosniak, et al. Sequence Variations in the FII, FV, F13A1, FGB and PAI-1 Genes are Associated with Differences in Myocardial Perfusion. Pharmacogenomics. 2011;12(2):195-203.
Rosendaal FR, Siscovick DS, Schwartz SM, et al. A common prothrombin variant (20210 G to A) increases the risk of myocardial infarction in young women. Blood. 1997;90(5):1747-50.
Martinelli I, Mannucci PM, De Stefano V, et al. Different risks of thrombosis in four coagulation defects associated with inherited thrombophilia: a study of 150 families. Blood. 1998;92(7):2353-8.
Wagh SB, Anadure R, Dutta V, et al. Isolated protein S deficiency presenting as catastrophic systemic arterial and subsequently venous thrombosis. Australas Med J. 2012;5(8):424-8.
Mahmoodi BK, Brouwer JL, Veeger NJ, van der Meer J. Hereditary deficiency of protein C or protein S confers increased risk of arterial thromboembolic events at a young age: results from a large family cohort study. Circulation. 2008;118(16):1659-67.
Auro K1, Alanne M, Kristiansson K, et al. Combined effects of thrombosis pathway gene variants predict cardiovascular events. PLoS Genet. 2007;3(7):e120.
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