CASE REPORT - MYOCARDIAL INFARCTION IN A YOUNG PATIENT WITH METHYLENE TETRAHYDROFOLATE REDUCTASE (MTHFR) GENE MUTATION

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. The patient was stopped from using the OCP and was started on life-long oral daily folic acid supplementation. Screening of her siblings led to the discovery that her two sisters were both homozygous for MTHFR deficiency. This case clearly illustrates that we as clinicians must look beyond the box and not just treat common conditions like CHD. When the risk factors do not add up, we must go in search of an identifiable cause that can have future benefit for the patient and other family members.

Keywords
Methylene Tetrahydrofolate Reductase gene mutation, Myocardial Infarction, Hyperhomocysteinaemia, Oral Contraceptive Pill, Gene Polymorphisms