Case report: Acute myocardial infarction in a 32-year-old white male found to have antiphospholipid antibody syndrome and MTHFR mutation homozygosity

Heart Lung. 2003 Jul-Aug;32(4):266-71. doi: 10.1016/s0147-9563(03)00075-x.

Abstract

We report the diagnosis and management of a 32-year-old Hungarian male, whose only known risk factor for coronary artery disease was smoking, who presented with an acute thrombotic anterolateral wall myocardial infarction requiring percutaneous transluminal coronary angioplasty (PTCA) stenting of his proximal left anterior descending coronary artery. He arrived to the emergency room with an abnormally prolonged partial thromboplastin time (PTT) that subsequently did not correct by mixing with normal plasma. This was suggestive of an underlying coagulopathy. An extensive coagulopathy work up found him to have the antiphospholipid antibody syndrome with antibodies positive for anticardiolipin, lupus anticoagulant and false-positive VDRL. Genetic typing found him to be homozygous for a mutation in the methylenetetrahydrofolate reductase (MTHFR A1298C) gene, which, in the presence of additional thrombophilic factors, may have increased his risk of myocardial infarction. He was discharged on high dose coumadin.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Angioplasty, Balloon, Coronary
  • Antiphospholipid Syndrome / diagnosis*
  • Antiphospholipid Syndrome / genetics
  • Antiphospholipid Syndrome / therapy*
  • Biomarkers / blood
  • Coronary Thrombosis / diagnosis
  • Coronary Thrombosis / genetics
  • Coronary Thrombosis / therapy
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics
  • Homozygote*
  • Humans
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics
  • Mutation / genetics*
  • Myocardial Infarction / diagnosis*
  • Myocardial Infarction / genetics
  • Myocardial Infarction / therapy*
  • Partial Thromboplastin Time

Substances

  • Biomarkers
  • Genetic Markers
  • Methylenetetrahydrofolate Reductase (NADPH2)