Thrombophilia and cardioembolic stroke in a young patient. A case report

Thrombophilia is well known to be an important risk factor for venous thrombosis, but there is not enough clinical data to explain the association with arterial thrombosis. While there are not sufficient and consistent clinical studies to demonstrate an association between thrombophilia and cardioembolic stroke, several mutations in the methylenetetrahydrofolate reductase gene (MTHFR) have been studied as risk factors for conditions like ischemic stroke, coronary artery disease, diabetes mellitus and more. However, data regarding mutations in the MTHFR gene are insufficient for cardioembolic stroke. We report a case of cardioembolic stroke associated with thrombophilia (with MTHFR A1298C mutation) in a young patient. The co-morbid states (non-valvular AF, carotid atheromatosis, cardioembolic stroke) associated with thrombophilia, but also stroke severity and clinical evolution of this patient are a case particularity.