Multiple thrombophilia mutations as a possible cause of premature myocardial infarction
Language English Country Austria Media print-electronic
Document type Case Reports, Journal Article
PubMed
28382527
DOI
10.1007/s00508-017-1193-z
PII: 10.1007/s00508-017-1193-z
Knihovny.cz E-resources
- Keywords
- Atherosclerosis, Myocardial infarction, Polymorphism, Thrombophilia,
- MeSH
- Antigens genetics MeSH
- Atherosclerosis genetics MeSH
- Factor V genetics MeSH
- Genetic Predisposition to Disease genetics MeSH
- Platelet Membrane Glycoproteins genetics MeSH
- Myocardial Infarction genetics MeSH
- Plasminogen Activator Inhibitor 1 genetics MeSH
- Middle Aged MeSH
- Humans MeSH
- Methylenetetrahydrofolate Reductase (NADPH2) genetics MeSH
- DNA Mutational Analysis * MeSH
- Polymorphism, Genetic genetics MeSH
- Prothrombin genetics MeSH
- Risk Factors MeSH
- Thrombophilia genetics MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Names of Substances
- Antigens MeSH
- factor II clotting antigen MeSH Browser
- factor V Leiden MeSH Browser
- Factor V MeSH
- Platelet Membrane Glycoproteins MeSH
- Plasminogen Activator Inhibitor 1 MeSH
- Methylenetetrahydrofolate Reductase (NADPH2) MeSH
- MTHFR protein, human MeSH Browser
- platelet membrane glycoprotein VI MeSH Browser
- Prothrombin MeSH
- SERPINE1 protein, human MeSH Browser
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.
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