title: Acute myocardial infarction in a young patient with hyperhomocysteinaemia.
abstract: Homocysteinuria is a rare inborn error of metabolism known to be associated with an increased risk of vascular events. A 36-year-old Caucasian man presented with a 2 day history of epigastric discomfort associated with nausea and sweating. He has a history of homocysteinuria and had been poorly compliant with treatment. An ECG showed ST-segment elevation and Q-waves in anterior leads. Blood tests showed markedly elevated high-sensitivity troponin and high homocysteine levels. He had a failed primary percutaneous coronary intervention due to extensive thrombus in the left anterior descending artery, which was aspirated and he received integrelin infusion for 48 h. Echocardiogram showed mild-to-moderate impairment of left ventricular function with apical akinesis extending to the mid-portion of anteroseptal walls consistent with anterior myocardial infarction. He was started on homocysteine-lowering treatment with betaine and folic acid. He is now on follow-up with clinical chemistry and cardiac rehabilitation.
authors.affiliation: Emergency Department, Ulster Hospital, Belfast, UK.
authors.forename: Vincent
authors.initials: V
authors.lastname: Ukachukwu
authors.forename: Salah
authors.initials: S
authors.lastname: Idris
authors.forename: Alister
authors.initials: A
authors.lastname: McIlwee
mesh_terms: D000208:Acute Disease; D000328:Adult; D001622:Betaine / Q000627:therapeutic use; D003331:Coronary Vessels / Q000473:pathology; D005492:Folic Acid / Q000627:therapeutic use; D006321:Heart / Q000503:physiopathology*; D006710:Homocysteine / Q000097:blood* / Q000652:urine; D006801:Humans; D020138:Hyperhomocysteinemia / Q000150:complications* / Q000188:drug therapy / Q000378:metabolism; D008297:Male; D009203:Myocardial Infarction / Q000209:etiology* / Q000378:metabolism / Q000628:therapy; D009206:Myocardium / Q000473:pathology*; D013927:Thrombosis / Q000628:therapy; D014336:Troponin / Q000097:blood; D016277:Ventricular Function, Left
chemical_list: D014336:Troponin; D006710:Homocysteine; D001622:Betaine; D005492:Folic Acid