Simultaneous Tromboembolic Events in a Patient with Heterozygous MTHFR Mutation

Liviu Macovei ,Dan Alexandrescu ,Catalina Arsenescu Georgescu ,A Gurzu

doi:10.3823/1673

Abstract

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

Highlights

Thrombophilias are conditions associated with hypercoagulable status and increased risk of arterial and venous thrombosis, which represents a significant cause of mortality and morbidity worldwide [1]
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 methylenetetrahydrofolate reductase (MTHFR) gene mutation
MTHFR gene mutation causing hyperhomocysteinemia should be suspected in patients with thromboembolic events, especially when occuring repeatedly or at young ages

Summary

Conclusions

The particularity of the presented case is the occurance of two simultaneous thromboembolic events, coronary and cerebrovascular, in the presence of moderate hyperhomocysteinemia most likely due to MTHFR gene mutation. This adds to the evidence pleeding for significant association of hyperhomocysteinemia with prothrombotic state leading to increased cardiovascular risk. MTHFR gene mutations, as the main causes of moderate high levels of homocysteine, should be suspected in patients with thromboembolic events and no classical risk factors. Recurrent pregnancy loss is another manifestation of thrombophilia caused by hyperhomocysteinemia and MTHFR gene mutations. Correct and timely diagnosis of thrombophilia in patients with a first embolic event or pregnancy loss, followed by adequate therapeutic management could result in improved prognosis for this category of patients

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