Cardioembolic stroke in a 23-year-old man with elbow contracture, an unusual presentation of Emery Dreifuss Muscular Dystrophy (EDMD) (P5.451)

Objective: To report a case of Emery Dreifuss Muscular Dystrophy (EDMD) with a novel mutation, presenting with cardioembolic stroke. Background: Early onset elbow, heel cord contractures, humeroperoneal distribution of muscle atrophy, weakness, and cardiac conduction defects are cardinal features of EDMD. Cardiac complications of EDMD include atrial fibrillation, atrial stand still, ventricular dysfunction, sudden cardiac death, and on rare occasions cardioembolic events may occur. Design/Methods: Case report. Results: A 23-year-old right handed man, diagnosed with SMA type 3 in childhood, presented with right facial droop, hemiparesis and expressive aphasia from distal left MCA thromboembolic occlusion. He recovered completely with the administration of thrombolytics. His cardiac monitoring revealed episodes of atrial fibrillation and episodic bradycardia. Echocardiogram showed normal left ventricular ejection fraction (>55%) and cardiac MRI showed moderate dilatation of right atrium, left atrium, and severe dilatation of left ventricle. Neurological examination revealed muscle atrophy in a predominantly humeroperoneal distribution, with mild weakness in deltoid and triceps (4+/5 MRC scale) and moderate weakness in ankle dorsiflexion (3+/5 MRC scale) bilaterally. There were prominent elbow and heel contractures. Sensory exam was normal and reflexes were globally absent. Elbow and heel cord contractures and cardiac involvement were not consistent with the previous diagnosis of SMA type 3. An alternative diagnosis was considered. Based on his clinical features EDMD was suspected. Genetic testing revealed a novel heterozygous pathogenic mutations in the LMNA gene on c.122G>A (p.Arg41His), confirming the diagnosis. He was started on anticoagulation. Pacemaker and a single chamber ICD were placed to prevent fatal cardiac arrhythmia. Conclusions: Cardioembolic stroke in a young patient with signs of skeletal muscle involvement should raise the suspicion of an underlying muscular dystrophy, particularly EDMD. EDMD can lead to life-threatening cardiac complications. Frequent cardiac monitoring and early placement of pacemaker or ICD are important to prevent fatal tachyarrhythmia and sudden cardiac death. Disclosure: Dr. Roy has nothing to disclose. Dr. Raynor has nothing to disclose.