Emery Dreifuss disease (EDMD) is a rare muscular dystrophy mostly caused by a mutation of lamin A/C or emerin genes. Heart involvement leads to arrhythmias, conduction disorders and congestive heart failure. At times, these patients can be candidate to cardiac resynchronization therapy (CRT).

To describe characteristics and outcome of EDMD patients receiving CRT.

All consecutive EDMD patients implanted with a CRT device for conventional indication were included in the study. Clinical, echocardiographic and device interrogation data were collected during the follow-up period.

From 2002 to 2013, 11 EDMD patients received CRT (4 males; mean age 52±5 years). Most of patients underwent an upgrade procedure (n=10, 91%) from a pacemaker (2/10) or implantable defibrillator (8/10). Average pacing percentage was 95% before CRT upgrade. Average NYHA was 2.6±before implantation. Most patients had right ventricular dysfunction with severe tricuspid regurgitation (75%). Ten out of eleven patients (91%) received CRT-Defibrillators. One patient (9%) required reintervention for pocket hematoma. Median follow-up was 21 months. Average biventricular pacing rate was 98%. Among patients implanted with defibrillators, 8/10 (80%) had appropriate therapies for ventricular arrhythmias while 2/10 (20%) had inappropriate therapies. Median left ventricular ejection fraction as well as median left ventricular end diastolic diameter remained unchanged: 37.5% vs 37% before CRT and 61.5mm vs 60mm before CRT respectively. Despite CRT, 6/11 patients (55%) had heart transplantation after an 11 months’ median follow-up period.

Despite optimal CRT and apparent stability of the left ventricular dysfunction, heart transplantation is often rapidly necessary in EDMD. Right ventricular dysfunction and severe tricuspid regurgitation may partly explain these patients’ poor prognosis despite CRT.