Myocardial infarction and venous thrombosis in a 42-year old woman with heterozygous methylenetetrahydrofolate reductase (MTHRF) gene mutation, hyperhomocysteinemia, and protein C deficiency

Objective Hyperhomocysteinemia and protein C deficiency have synergistic effect on the onset of thrombotic disease. Methods We report a 42-year old woman with myocardial infarction and venous thrombosis in whom recognition of heterozygous MTHRF gene mutation, hyperhomocysteinemia, and protein C deficiency. Results The patient was treated successfully with coronary artery bypass graft surgery and systemic anticoagulation. Conclusions Our report emphasize that a combined hyperhomocysteinemia, and protein C deficiency may be a high risk factor for arterial and venous thromboembolic events in young adults. These patients might be candidates for indefinite anticoagulation.