1. Introduction Duchenne muscular dystrophy (DMD) is a devastating X-linked recessive disorder characterized by progressive muscle weakness. We present two patients with ischemic stroke, a relatively rare complication in DMD and different risk factors.

2. Methods We performed a cardiologic and coagulation workup in two DMD patients with stroke due to an occlusion of the right middle cerebral artery (August 2022 - July 2023).

3. Results Presenting with a focal neurologic deficit both patients received an acute MRI examination, a thrombectomy and an anticoagulation afterwards. In one patient (13 years) the echocardiography revealed a severely reduced left ventricular function with an ejection fraction (EF) below 10% due to a dilatative cardiomyopathy (DCMP). The other patient (24 years) also showed a DCMP, but with a better EF of 30% and additionally the 4G variant in the plasminogen activator inhibitor type 1 gene, which cause an elevated risk of thrombosis.

4. Conclusion These two cases highlight different risk factors for strokes in patients with DMD. The DCMP, a major complication should be monitored and treated according to the standards of care. A predisposition to an increased risk of thrombosis may also play a role in the pathogenesis of strokes in DMD patients, but is not routinely investigated. Further studies are needed to be able to perform a valid stroke risk assessment including coagulation testing and then possibly opt for a prophylactic anticoagulation in DMD patients with multiple risk factors to prevent further deterioration of mobility and quality of life.

Manuel Pühringer
Kepler University Hospital Linz
Austria

Astrid Eisenkölbl
Kepler University Hospital Linz
Austria

Gudrun Gröppel
Kepler University Hospital Linz
Austria