Severe dilated cardiomyopathy and ventricular arrhythmia in a patient with Emery-Dreifuss muscular dystrophy harboring a novel frameshift mutation in EMD

We report a case of a 55-year-old man with dilated cardiomyopathy and ventricular tachycardia/ventricular fibrillation (VT/VF). He had contracture of neck and ankle flexion from infancy and was found to have dilated cardiomyopathy at the age of 24 years. Intensive cardiac treatment including medication and the use of a defibrillator failed to improve his cardiac function, and heart transplantation was indicated at the age of 55 years. Joint contractures and proximal dominant muscle atrophy with mild weakness suggested Emery-Dreifuss muscular dystrophy (EDMD). The diagnosis of EDMD1 was made based on genetic analysis of EMD and muscle biopsy showing the absence of emerin. The patient was listed as a candidate for heart transplantation, but he died 3 months later due to sustained VT/VF. The present case emphasizes the necessity of considering timely heart transplantation even when a defibrillator is implanted in patients with EDMD.