Key result
Heart transplantation achieves preserved graft function and survival at ~43 months in LMNA muscular dystrophy.
Why the study?
Heart transplantation remains an uncommon therapeutic option for patients with LMNA-related Emery–Dreifuss muscular dystrophy due to concerns about the underlying neuromuscular disease.
Does orthotopic heart transplantation improve outcomes in patients with LMNA-related Emery-Dreifuss muscular dystrophy and end-stage heart failure?
Case Report (n=1)
Does orthotopic heart transplantation improve outcomes in patients with LMNA-related Emery-Dreifuss muscular dystrophy and end-stage heart failure?
Heart transplantation is a feasible and potentially successful treatment option for carefully selected patients with Emery-Dreifuss muscular dystrophy and end-stage heart failure.
May support heart transplantation in selected LMNA-related EDMD; hypothesis-generating from single case, larger series needed.
Introduction Emery–Dreifuss muscular dystrophy (EDMD) is a rare inherited neuromuscular disorder frequently associated with progressive cardiac involvement, particularly in patients carrying LMNA mutations. End‐stage heart failure may develop despite optimal medical and device therapy, although heart transplantation remains an uncommon therapeutic option because of concerns regarding the underlying neuromuscular disease. Case Presentation We report the case of a 35‐year‐old woman with LMNA ‐related EDMD who developed advanced biventricular heart failure complicated by recurrent atrial and ventricular arrhythmias, complete atrioventricular block, implantable cardioverter‐defibrillator implantation, and multiple thromboembolic events. Pretransplant neurological and respiratory assessments demonstrated preserved functional status without severe musculoskeletal impairment. Owing to refractory ventricular tachyarrhythmias and progressive heart failure, the patient underwent orthotopic heart transplantation in December 2022. Postoperative recovery was uneventful, with discharge on postoperative day 21. At 43‐month follow‐up, she remained alive with preserved graft function, no episodes of rejection, stable respiratory function, and no evidence of neurological deterioration. Conclusion Heart transplantation may be a feasible treatment option for carefully selected patients with EDMD and end‐stage heart failure. Careful multidisciplinary assessment is essential to identify candidates who can achieve favorable long‐term outcomes.
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Fischetti et al. (2026) conducted a case report in LMNA-related Emery-Dreifuss muscular dystrophy (EDMD) and end-stage heart failure (n=1). Orthotopic heart transplantation was evaluated. Orthotopic heart transplantation in a 35-year-old woman with LMNA-related Emery-Dreifuss muscular dystrophy resulted in survival and preserved graft function at 43-month follow-up.
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