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

Cakir O, Ayyildiz O, Goz M, Sit D, Eren N

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.

Published 6 April 2007 in Int J Cardiol, 117(3): e98-100.
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