Case report. Role of the Methylene Tetrahydrofolate Reductase (MTHFR) Gene Mutation in Acute Myocardial Infarction

This is a case report of a 36-year-old male who was diagnosed with acute inferior and right ventricular myocardial infarction and treated with percutaneous coronary angioplasty with a drug-eluting stent in the right coronary artery. A profile test for thrombophilia was performed for methylene tetrahydrofolate reductase (MTHFR) gene mutation; the test was positive for a heterozygous mutation - C677C and 1298A. The patient received a long-term treatment with folic acid supplements, taken daily. This case report shows that medical doctors should have an outside-the-box approach for the diagnosis and therapeutic management of young patients who present with acute cardiovascular events. If the patient in question does not present clear cardiovascular risk factors for acute myocardial ischemia, the clinician should seek for possible causes, thus leading to several benefits in the management and secondary prevention of such cases.