Charles Explorer logo
🇬🇧

Large-vessel occlusion in a patient with Emery-Dreifuss muscular dystrophy

Publication at Third Faculty of Medicine |
2021

Abstract

In this case report, we present a 47-yearold woman with cardiomyopathy in EDMD (with minor clinical expressions on the skeletal muscles) due to a mutation in the LMNA (lamin A) gene, who developed acute extensive ischemic stroke in the internal carotid artery. The patient was being prepared for ICD and permanent anticoagulant medication when acute stroke occurred.