Myocardial Infarction in a Young Patient with Methylene Tetrahydrofolate Reductase (mthfr) Gene Mutation

Modifiable risk factors for CHD include high blood pressure, high blood cholesterol, smoking, obesity, physical inactivity, diabetes, and stress. When a patient presents with the typical features of CHD (like ours) but do not have the modifiable risk factors, genetic causes should be considered. A limited number of genetic variants are proven to be independent risk factors for thromboembolism. These include mutations in the genes encoding the natural anticoagulants antithrombin, protein C and protein S, and the clotting factors fibrinogen, prothrombin and factor V. A common genetic variant in the MTHFR gene involving a cytosine to thymidine (C-->T) transition at nucleotide 677 is associated with reduced enzyme activity, altered folate status and potentially higher folate requirements (1). We report a case of a 40 year old female patient who presents with chest pain and is diagnosed with a inferior myocardial infarction (MI) and when tested she was found to be heterozygous (C677T) for Methylene Tetrahydrofolate Reductase (MTHFR) gene mutation. MYOCARDIAL INFARCTION IN A YOUNG PATIENT WITH METHYLENE TETRAHYDROFOLATE REDUCTASE (MTHFR) GENE MUTATION