Papa Andrea Antonio, D'Ambrosio Paola, Petillo Roberta, Palladino Alberto, Politano Luisa
Cardiomyology and Medical Genetics, Department of Experimental Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.
Intractable Rare Dis Res. 2017 May;6(2):95-101. doi: 10.5582/irdr.2017.01024.
Cardiomyopathy associated with dystrophinopathies [Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy (XL-dCM) and cardiomyopathy of Duchenne/Becker (DMD/BMD) carriers] is an increasing recognized manifestation of these neuromuscular disorders and notably contributes to their morbidity and mortality. Dystrophinopathic cardiomyopathy (DCM) is the result of the dystrophin protein deficiency at the myocardium level, parallel to the deficiency occurring at the skeletal muscle level. It begins as a "presymptomatic" stage in the first decade of life and evolves in a stepwise manner toward pictures of overt cardiomyopathy (hypertrophic stage, arrhythmogenic stage and dilated cardiomyopathy). The final stage caused by the extensive loss of cardiomyocytes results in an irreversible cardiac failure, characterized by frequent episodes of acute congestive heart failure (CHF), despite a correct pharmacological treatment. The picture of a severe dilated cardiomyopathy with intractable heart failure is typical of BMD, XL-dCM and cardiomyopathy of DMD/BMD carriers, while it is less frequently observed in patients with DMD. Heart transplantation (HT) is the only curative therapy for patients with dystrophinopathic end-stage heart failure who remain symptomatic despite an optimal medical therapy. However, no definitive figures exist in literature concerning the number of patients with DCM transplanted, and their outcome. This overview is to summarize the clinical outcomes so far published on the topic, to report the personal series of dystrophinopathic patients receiving heart transplantation and finally to provide evidence that heart transplantation is a safe and effective treatment for selected patients with end-stage DCM.
与肌营养不良症相关的心肌病[杜氏肌营养不良症（DMD）、贝克肌营养不良症（BMD）、X连锁扩张型心肌病（XL-dCM）以及杜氏/贝克肌营养不良症（DMD/BMD）携带者的心肌病]是这些神经肌肉疾病中越来越被认识到的一种表现，并且显著导致了它们的发病率和死亡率。肌营养不良性心肌病（DCM）是心肌层面肌营养不良蛋白缺乏的结果，与骨骼肌层面发生的缺乏情况平行。它始于生命的第一个十年的“症状前期”阶段，并以逐步的方式发展为明显的心肌病表现（肥厚阶段、致心律失常阶段和扩张型心肌病）。由心肌细胞大量丧失导致的最终阶段会引发不可逆的心力衰竭，其特征是尽管进行了正确的药物治疗，但仍频繁出现急性充血性心力衰竭（CHF）发作。严重扩张型心肌病伴难治性心力衰竭的表现是BMD、XL-dCM以及DMD/BMD携带者的心肌病的典型特征，而在DMD患者中较少见。心脏移植（HT）是针对患有肌营养不良性终末期心力衰竭且尽管接受了最佳药物治疗仍有症状的患者的唯一治愈性疗法。然而，关于接受移植的DCM患者数量及其预后，文献中没有确切的数据。本综述旨在总结迄今为止关于该主题已发表的临床结果，报告接受心脏移植的肌营养不良症患者的个人系列情况，并最终提供证据表明心脏移植对于选定的终末期DCM患者是一种安全有效的治疗方法。
