Abstract
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.
Highlights
Modifiable risk factors for coronary heart disease (CHD) include high blood pressure, high blood cholesterol, smoking, obesity, physical inactivity, diabetes, and stress
The results showed that both her sisters were homozygous for Methylene Tetrahydrofolate Reductase (MTHFR) gene mutation, though they have remained asymptomatic
When a patient presents with the typical features of CHD but do not have the modifiable risk factors, genetic causes should be considered
Summary
MYOCARDIAL INFARCTION IN A YOUNG PATIENT WITH METHYLENE TETRAHYDROFOLATE REDUCTASE (MTHFR) GENE. 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.
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