title: Multiple thrombophilia mutations as a possible cause of premature myocardial infarction.
abstract: The incidence of acute myocardial infarction (AMI) increases with clustering of predisposing risk factors. In younger subjects with a positive family history of AMI occurring in relatives under the age of 60 years without obvious risk factors for atherosclerosis, there is a potential for strong inherited traits contributing to the risk of coronary disease. Among them there is increasing evidence that hereditary thrombophilia may play a major role. We present a unique case of a patient developing AMI at the age of 48 years. In this patient, without traditional risk factors for atherosclerosis, eight mutations and polymorphisms in six different genes were identified: polymorphism of factor V Leiden (1691 GA), factor II prothrombin (20210 GA), methylenetetrahydrofolate reductase (MTHFR, 677 CT and 1298 AC), plasminogen activator inhibitor 1 (PAI-1) polymorphism 4G/5G and glycoprotein VI (GP6, 13254 TC, Ser219Pro). All could be involved in the pathogenesis of the arterial thrombosis. Although such associations are extremely rare, it underlines the importance of thrombophilia assessment in cases with otherwise unexpected coronary disease occurring at young age. According to our experience, in the case of documented hereditary thrombophilia lineal relatives should be examined and/or followed up.
authors.affiliation: Second Department of Cardiovascular Medicine, First Faculty of Medicine, Charles University in Prague, U Nemocnice 2, 12808, Prague, Czech Republic. gabriela.dostalova@vfn.cz.
authors.forename: Gabriela
authors.identifier: http://orcid.org/0000-0003-4809-1274
authors.initials: G
authors.lastname: Dostálová
authors.affiliation: Second Department of Cardiovascular Medicine, First Faculty of Medicine, Charles University in Prague, U Nemocnice 2, 12808, Prague, Czech Republic.
authors.forename: Jan
authors.initials: J
authors.lastname: Bělohlávek
authors.affiliation: Second Department of Cardiovascular Medicine, First Faculty of Medicine, Charles University in Prague, U Nemocnice 2, 12808, Prague, Czech Republic.
authors.forename: Zuzana
authors.initials: Z
authors.lastname: Hlubocká
authors.affiliation: Second Department of Cardiovascular Medicine, First Faculty of Medicine, Charles University in Prague, U Nemocnice 2, 12808, Prague, Czech Republic.
authors.forename: Kristýna
authors.initials: K
authors.lastname: Bayerová
authors.affiliation: Institute of Medical Biochemistry and Laboratory Diagnostics, the Thrombosis Center, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.
authors.forename: Petra
authors.initials: P
authors.lastname: Bobčiková
authors.affiliation: Institute of Medical Biochemistry and Laboratory Diagnostics, the Thrombosis Center, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.
authors.forename: Tomáš
authors.initials: T
authors.lastname: Kvasnička
authors.affiliation: Institute of Medical Biochemistry and Laboratory Diagnostics, the Thrombosis Center, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.
authors.forename: Jan
authors.initials: J
authors.lastname: Kvasnička
authors.affiliation: Second Department of Cardiovascular Medicine, First Faculty of Medicine, Charles University in Prague, U Nemocnice 2, 12808, Prague, Czech Republic.
authors.forename: Aleš
authors.initials: A
authors.lastname: Linhart
authors.affiliation: Second Department of Cardiovascular Medicine, First Faculty of Medicine, Charles University in Prague, U Nemocnice 2, 12808, Prague, Czech Republic.
authors.forename: Debora
authors.initials: D
authors.lastname: Karetová
mesh_terms: D000941:Antigens / Q000235:genetics; D050197:Atherosclerosis / Q000235:genetics; D004252:DNA Mutational Analysis; D005165:Factor V / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D008875:Middle Aged; D009203:Myocardial Infarction / Q000235:genetics*; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics; D010980:Platelet Membrane Glycoproteins / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics; D011516:Prothrombin / Q000235:genetics; D012307:Risk Factors; D019851:Thrombophilia / Q000235:genetics*
chemical_list: D000941:Antigens; D017395:Plasminogen Activator Inhibitor 1; D010980:Platelet Membrane Glycoproteins; C051321:SERPINE1 protein, human; C055042:factor II clotting antigen; C095381:factor V Leiden; C098341:platelet membrane glycoprotein VI; D005165:Factor V; D011516:Prothrombin; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
keywords: Atherosclerosis; Myocardial infarction; Polymorphism; Thrombophilia