CASE REPORT
MYOCARDIAL INFARCTION IN A YOUNG PATIENT WITH METHYLENE TETRAHYDROFOLATE REDUCTASE (MTHFR) GENE MUTATION
 
 
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1
University of Liverpool, Clinical Sciences Centre, United Kingdom
2
Royal Liverpool & Broadgreen Hospitals NHS Trust, United Kingdom
CORRESPONDING AUTHOR
Jason Ramtahal   

MBBS, MRCP, PGCTLCP, Clinical Research Fellow University of Liverpool, Clinical Sciences Centre, Lower Lane, Liverpool L9 7LJ, United Kingdom
Online publication date: 2004-10-15
Publication date: 2004-10-15
 
Eur J Gen Med 2004;1(4):78–80
 
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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.
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