Simultaneous tromboembolic events in a patient with heterozygous MTHFR mutation


  • L. Macovei
  • Alexandra Gurzu
  • D.M Alexandrescu
  • Catalina Arsenescu Georgescu



Tromboembolic Events, Heterozygous MTHFR Mutation, Stroke


Background: Hyperhomocysteinemia is a well recognised risk factor for arterial and venous thrombosis. The most common form results from methylenetetrahydrofolate reductase (MTHFR) gene mutations leading to decreased enzymatic activity.
Case report: We present the case of a 34 year-old woman with a sudden onset of left hemiparesis and aphasia accompanied by retrosternal pain. She is diagnosed with acute posteroinferolateral myocardial infarction and stroke. Homocysteine level was determined and it was moderately elevated. The coronary angiogram revealed partially recanalised embolic occlusion of posterior left ventricular branch and posterior interventricular artery. A conservative treatment management is adopted. She remained haemodynamically stable, with complete resolution of neurological symptoms and evolution to subacute myocardial infarction.
Conclusions: The particularity of our case is represented by symultaneous thromboembolic events causing myocardial infarction and ischemic stroke in a patient with a history of recurrent pregnancy loss, which was previously diagnosed with MTHFR gene mutation. Moderate hyperhomocysteinemia, also found in our patient, is recognised as an ethiopathogenic factor of thrombophilia. The right diagnosis and therapeutic approach could be the key to improved prognosis in this category of patients. MTHFR gene mutation causing hyperhomocysteinemia should be suspected in patients with thromboembolic events, especially when occuring repeatedly or at young ages