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Multiple thrombophilia mutations as a possible cause of premature myocardial infarction
Gabriela Dostálová1, Jan Bělohlávek2, Zuzana Hlubocká2
1Second Department of Cardiovascular Medicine, First Faculty of Medicine, Charles University in Prague, U Nemocnice 2, 12808, Prague, Czech Republic. gabriela.dostalova@vfn.cz.
Insights
Hereditary thrombophilia, a genetic blood clotting disorder, may significantly increase the risk of early-onset acute myocardial infarction (AMI) even without traditional risk factors. Genetic testing is crucial for affected individuals and their families.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Hematology
Background:
- Acute myocardial infarction (AMI) incidence rises with risk factor clustering.
- Younger individuals with a family history of AMI and no obvious atherosclerosis risk factors may have strong inherited predispositions.
- Hereditary thrombophilia is increasingly recognized as a potential contributor to coronary disease risk.
Observation:
- A unique case of a 48-year-old patient experiencing AMI without traditional atherosclerosis risk factors is presented.
- The patient exhibited eight mutations/polymorphisms in six genes, including Factor V Leiden, Factor II Prothrombin, MTHFR, PAI-1, and GP6.
- These genetic variations are implicated in the pathogenesis of arterial thrombosis.
Findings:
- The identified genetic mutations and polymorphisms suggest a strong link between hereditary thrombophilia and premature AMI.
- This case highlights the potential role of multiple genetic factors in the development of coronary disease in young individuals.
- The combination of genetic variants may synergistically increase the risk of arterial thrombosis.
Implications:
- Thrombophilia assessment is vital for patients with unexplained coronary events at a young age.
- Documented hereditary thrombophilia warrants genetic evaluation and follow-up for at-risk lineal relatives.
- Understanding genetic predispositions can improve risk stratification and preventative strategies for cardiovascular disease.
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.