Papa Andrea Antonio, Verrillo Federica, Scutifero Marianna, Rago Anna, Morra Salvatore, Cassese Antonio, Cioppa Nadia Della, Magliocca Maria Cristina Giada, Galante Dario, Palladino Alberto, Golino Paolo, Politano Luisa
Department of Cardiology, University of Campania "Luigi Vanvitelli", Monaldi Hospital, Naples, Italy.
Cardiomyology and Medical Genetics, Department of Experimental Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.
Acta Myol. 2018 Dec 1;37(4):267-271. eCollection 2018 Dec.
Myotonic dystrophy type 1 (DM1) or Steinert's disease is the most common muscular dystrophy in adult life with an estimated prevalence of 1:8000. Cardiac involvement, including arrhythmias and conduction disorders, contributes significantly to the morbidity and mortality of the disease. Mild ventricular dysfunction has also been reported associated with conduction disorders, but severe ventricular systolic dysfunction is not a frequent feature and usually occurs late in the course of the disease. Heart transplantation is currently considered the ultimate gold standard surgical approach in the treatment of refractory heart failure in general population. To date, considering the shortage of donors that limit the achievement of a greater number of heart transplants and the reluctance of the cardiac surgeons to transplant patients with dystrophic cardiomyopathy, little is known about the number of patients with DM1 transplanted and their outcome. We report the case of a 44 year old patient with Steinert disease who showed an early onset ventricular dysfunction refractory to optimal medical and cardiac resincronization therapy, and underwent to successful heart transplantation. At our knowledge, this is the second heart transplantation performed in a patient affected by Steinert disease after the one reported by Conraads et al in 2002.
1型强直性肌营养不良症（DM1）或斯坦纳特病是成年期最常见的肌肉萎缩症，估计患病率为1:8000。心脏受累，包括心律失常和传导障碍，是该疾病发病和死亡的重要原因。也有报道称轻度心室功能障碍与传导障碍有关，但严重的心室收缩功能障碍并不常见，通常发生在疾病后期。目前，心脏移植被认为是治疗普通人群难治性心力衰竭的最终金标准手术方法。迄今为止，考虑到供体短缺限制了更多心脏移植的实现，以及心脏外科医生不愿为患有营养不良性心肌病的患者进行移植，关于接受移植的DM1患者数量及其预后知之甚少。我们报告了一例44岁的斯坦纳特病患者，该患者出现早期心室功能障碍，对最佳药物治疗和心脏再同步治疗无效，并成功接受了心脏移植。据我们所知，这是2002年康拉兹等人报道的首例患者之后，第二例为患有斯坦纳特病的患者进行的心脏移植。
