Summary

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 2day 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.