title: Case report: Acute myocardial infarction in a 32-year-old white male found to have antiphospholipid antibody syndrome and MTHFR mutation homozygosity.
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.
authors.affiliation: University of Medicine and Dentistry of New Jersey, Division of Cardiovascular Diseases, Newark, New Jersey 07103, USA.
authors.forename: George
authors.initials: G
authors.lastname: Stoupakis
authors.forename: Raghu
authors.initials: R
authors.lastname: Bejjanki
authors.forename: Rohit
authors.initials: R
authors.lastname: Arora
mesh_terms: D000328:Adult; D015906:Angioplasty, Balloon, Coronary; D016736:Antiphospholipid Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D015415:Biomarkers / Q000097:blood; D003328:Coronary Thrombosis / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D009203:Myocardial Infarction / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D010314:Partial Thromboplastin Time
chemical_list: D015415:Biomarkers; D005819:Genetic Markers; D042965:Methylenetetrahydrofolate Reductase (NADPH2)