Duchenne Muscular Dystrophy with Recurrent Cardioembolic Stroke: A Case Highlighting Thromboembolic Risks

Abstract

ABSTRACTAim: Cardiomyopathy is one of the inevitable and predictable complications of DMD and may increase the risk of cardioembolic stroke due to intracardiac thrombus formation. Here, we present the case of a young adult with a prior stroke history who developed recurrent ischemic stroke following the temporary discontinuation of antiplatelet therapy for dental treatment. This case highlights the importance of continued antithrombotic therapy and the need for multidisciplinary follow-up in patients with DMD who are at risk for cardioembolic events.Case Presentation: Our case was 26-year-old male with a known diagnosis of Duchenne muscular dystrophy (DMD) presented to the emergency department with sudden-onset speech disturbance. His medical history included an ischemic stroke three years earlier, for which he had been receiving antiplatelet therapy with clopidogrel. The medication had been temporarily discontinued for one week due to a planned dental procedure. The patient was wheelchair-bound, with a baseline modified Rankin Scale score of 5.Neurological examination revealed motor dysphasia and left central facial palsy, accompanied by relatively decreased muscle strength in the left lower extremity. Detailed motor evaluation was limited due to pre-existing contractures and spasticity. Cranial computed tomography showed no acute pathology. Brain magnetic resonance imaging demonstrated subacute infarct lesions in the right caudate nucleus and the left parietal lobe.Transthoracic echocardiography revealed mild cardiomyopathy with a left ventricular ejection fraction of 45–50%. Electrocardiography showed sinus rhythm with incomplete left bundle branch block, and no arrhythmia was detected on 24-hour Holter monitoring. Laboratory investigations demonstrated decreased antithrombin III activity (75.3%) and borderline activated protein C resistance (1.82), while protein C, protein S, and antiphospholipid antibody levels were within normal limits. Carotid and vertebral Doppler ultrasonography showed no significant stenosis. Further evaluation for genetic and acquired hypercoagulable states was unremarkable.Antithrombotic therapy was reinitiated. Although transesophageal echocardiography was recommended to further investigate a potential cardiac source of embolism, it was declined by the patient’s relatives. The patient was discharged with recommendations for close multidisciplinary follow-up in neurology and hematology clinics.Conclusion: Regular cardiac assessments, screening for coagulation disorders, and continuous antithrombotic therapy are essential for reducing stroke risk. A multidisciplinary, individualized treatment strategy is strongly recommended for patients with DMD.