Multiple thrombophilia mutations as a possible cause of premature myocardial infarction
Jazyk angličtina Země Rakousko Médium print-electronic
Typ dokumentu kazuistiky, časopisecké články
PubMed
28382527
DOI
10.1007/s00508-017-1193-z
PII: 10.1007/s00508-017-1193-z
Knihovny.cz E-zdroje
- Klíčová slova
- Atherosclerosis, Myocardial infarction, Polymorphism, Thrombophilia,
- MeSH
- antigeny genetika MeSH
- ateroskleróza genetika MeSH
- faktor V genetika MeSH
- genetická predispozice k nemoci genetika MeSH
- glykoproteiny membrány trombocytů genetika MeSH
- infarkt myokardu genetika MeSH
- inhibitor aktivátoru plazminogenu 1 genetika MeSH
- lidé středního věku MeSH
- lidé MeSH
- methylentetrahydrofolátreduktasa (NADPH2) genetika MeSH
- mutační analýza DNA * MeSH
- polymorfismus genetický genetika MeSH
- protrombin genetika MeSH
- rizikové faktory MeSH
- trombofilie genetika MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Názvy látek
- antigeny MeSH
- factor II clotting antigen MeSH Prohlížeč
- factor V Leiden MeSH Prohlížeč
- faktor V MeSH
- glykoproteiny membrány trombocytů MeSH
- inhibitor aktivátoru plazminogenu 1 MeSH
- methylentetrahydrofolátreduktasa (NADPH2) MeSH
- MTHFR protein, human MeSH Prohlížeč
- platelet membrane glycoprotein VI MeSH Prohlížeč
- protrombin MeSH
- SERPINE1 protein, human MeSH Prohlížeč
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.
Zobrazit více v PubMed
Pathophysiol Haemost Thromb. 2010;37(1):24-9 PubMed
Am Heart J. 2003 Dec;146(6):948-57 PubMed
J Am Coll Cardiol. 2011 Jul 19;58(4):426-34 PubMed
Int J Cardiol. 2008 Oct 30;130(1):e17-9 PubMed
Clin Appl Thromb Hemost. 2010 Oct;16(5):594-8 PubMed
Haematologica. 2005 Mar;90(3):421-3 PubMed
PLoS One. 2010 Feb 09;5(2):e9136 PubMed
Ulus Travma Acil Cerrahi Derg. 2009 Mar;15(2):113-9 PubMed
J Immunol. 2015 Jun 15;194(12):5579-87 PubMed
J Vasc Surg. 2005 May;41(5):808-15 PubMed
Cardiologia. 1998 Feb;43(2):189-93 PubMed
Circ Cardiovasc Genet. 2010 Oct;3(5):445-53 PubMed
J Cardiovasc Med (Hagerstown). 2010 Feb;11(2):125-6 PubMed
Arterioscler Thromb Vasc Biol. 2007 Sep;27(9):2030-6 PubMed
Hippokratia. 2012 Jul;16(3):250-5 PubMed
Thromb Res. 2010 Feb;125(2):e61-4 PubMed
Genet Test Mol Biomarkers. 2010 Aug;14(4):493-8 PubMed
Circulation. 2001 Sep 25;104(13):1459-63 PubMed
Cardiovasc Pathol. 2010 Sep-Oct;19(5):302-7 PubMed
Saudi Med J. 2008 Jan;29(1):48-54 PubMed
J Thromb Thrombolysis. 2004 Jun;17(3):199-205 PubMed
Ann Thorac Cardiovasc Surg. 2014;20 Suppl:769-72 PubMed
Tex Heart Inst J. 2011;38(2):183-6 PubMed
