080: Long-term outcomes after heart transplantation for Emery-Dreifuss muscular dystrophy

Background Emery-Dreifuss muscular dystrophy (EDMD) is an hereditary syndrome related to mutations in lamin A/C gene (LMNA) and is characterised by severe dilated cardiomyopathy, mostly slight peripheral muscular dystrophy, supra-ventricular arrhythmia and atrio-ventricular (AV) block. Transplantation for EDMD is rarely reported in the ISHLT registry. We aim to study outcomes after heart transplantation (HTx) for end-stage heart failure in twelve EDMD patients. Methods 12 cases of HTx performed for EDMD confirmed by genetic analysis in a single institution between 1997 and 2011 were compared to 12 patients age, sex and year of transplantation matched. Survival curves were analysed by Kaplan-Meier method. Results Before transplantation, EDMD patients had similar age (56 vs 57 yo, p=0,81), sex ratio (42% male), pre-transplantation NYHA functional class III (p=0,207), left ventricular ejection fraction (LVEF=33% vs 32%, p=0,89), higher rate of supra-ventricular arrythmia (100% vs 45%, p=0,002) and AV block (58% vs 12.5%, p=0,042) compared to non-EDMD. After HTx, NYHA functional class was similar (I, p=1,00), LVEF (72+/-5,91% vs 69+/-11,3%, p=0,49), rejection rate (19+/-3,8% vs 40+/-8,2% by year, p=0,45), infection rate (14% vs 6% by year, p=0,087), renal function (eGFR=89+/-49 vs 66+/-37 ml/min, p=0,22) were similar after HTx in EDMD and non-EDMD group. Survival rate at 1 year, 2 years, 5 years were not significantly different (respectively 91.6%, 90.9%, 81.5% versus 100%, 100%, 100% p=0,146). 42% EDMD patients had slight muscular dysfunction, compatible with good quality of life. Conclusion Despite reluctance for heart transplantation in end-stage HF patients with EDMD, long term outcomes are similar to non EDMD patients at 1,2 and 5-year follow-up in our institution.