Simultaneous tromboembolic events in a patient with heterozygous MTHFR mutation
AbstractBackground: 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
This work is licensed under a Creative Commons Attribution-ShareAlike 4.0 International License.
Authors who publish with this journal agree to the following terms:
- Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
- Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
- Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access and Benefits of Publishing Open Access).