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Updated: Nov 25, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Compound heterozygous MTHFR (C677T and A1298C) variants and anterior STEMI: cause or bystander?

Maria Anna Bazmpani1, Haralambos Karvounis1, George Kassimis1,2

  • 1First Department of Cardiology, Aristotle University of Thessaloniki, AHEPA University Hospital, Thessaloniki, Greece.

Future Cardiology
|December 17, 2020
PubMed

We present the case of a 40-year-old female patient with ST-segment elevation myocardial infarction successfully treated with a primary percutaneous coronary intervention. Thrombophilia testing revealed compound heterozygous MTHFR (C677T and A1298C) variants. We searched the literature for myocardial infarction in the setting of MTHFR polymorphisms and the possible pathophysiologic mechanisms. In young patients presenting with a thrombotic event, screening for thrombophilia could be beneficial for identification of etiology.

Keywords:
MTHFR polymorphismsST-segment elevation myocardial infarctioncompound heterozygous MTHFR (C677T and A1298C) variantsyoung patients

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