Dilated cardiomyopathy with severe arrhythmias in Emery-Dreifuss muscular dystrophy

摘要

Herein presented is the case of a 51-year-oldmale with Emery-Dreifuss muscular dystrophy(EDMD) with a history of rapid progression heartfailure (HF) and heart rhythm disturbances overan 8 year period. EDMD is a rare genetic conditionthat primarily affects skeletal muscles. The patientpresented with muscle weakness since childhood.Family history was negative. At the age of 43 atrialfibrillation was diagnosed and 2 years later a singlechamber pacemaker was implanted due to thirdatrioventricular block. After another 2 years, thepatient was admitted due to ventricular tachycardia. Transthoracic echocardiography (TTE)revealed moderately reduced left ventricular function (ejection fraction [EF] 48%). A single-chambercardioverter-defibrillator (ICD-VR) was implanted.After 2 years of well-being, he was admitted to thehospital due to an electrical storm. TTE revealeddilated cardiomyopathy with severe left ventriculardysfunction (EF 15%). Due to clinical presentation,a high percentage of right ventricular pacing, andwide QRS complex (paced QRS 200 ms) the patientqualified for cardiac resynchronization therapy withdefibrillator (CRT-D). The left ventricular electrodewas implanted and ICD was upgraded to CRT-Dresulting in a correct VVI-BiV stimulation withnarrowing of QRS complexes to 140 ms. TTEperformed after another few months showedsignificantly improved EF (30%). After anotheryear a right ventricular lead malfunction occurred— myopotential oversensing and inappropriatedetection of ventricular tachycardia. Connection ofthe right ventricular pace/sense lead to the pacesense header resulted in proper sensing. Sincethen the patient has remained stable. EDMD leadsto HF, arrhythmias and conduction disturbancesin about 30% of cases. It is thus believed thatimplantation of CRT-D in an early stage of cardiacinvolvement may both treat arrhythmias and slowHF progression (Fig. 1).