Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, MN, USA; Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA.
Department of Integrative Biology and Physiology, University of Minnesota Medical School, Minneapolis, MN, USA; Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, MN, USA; Lillehei Heart Institute, University of Minnesota Medical School, Minneapolis, MN, USA.
Neuromuscul Disord. 2023 Oct;33(10):776-781. doi: 10.1016/j.nmd.2023.09.004. Epub 2023 Sep 19.
Duchenne muscular dystrophy is a devastating muscle disease characterized by muscle deterioration and cardiomyopathy. The cardiomyopathy is progressive in nature, marked by the accumulation of myocardial scarring and the loss of contractile function. The presence of cardiac disfunction is nearly universal in individuals with Duchenne muscular dystrophy with dysfunction being evident in patients < 10 years of age. In recognition of importance of prophylactic treatment, clinical guidelines recommend beginning treatment of the heart disease in Duchenne muscular dystrophy patients at 10 years of age, even in the absence of cardiac dysfunction. This manuscript evaluates the current practices of treatment of dystrophic cardiomyopathy. We make use of clinical data compiled by the Muscular Dystrophy Association to assess changes in medical management of cardiac disease in Duchenne muscular dystrophy patients in response to changes in guidelines. We find since the issuance of new guidelines Duchenne muscular dystrophy patients receiving cardiac-directed therapy are beginning it at significantly younger ages. However, we show that 64 % of individuals with Duchenne muscular dystrophy are not receiving the recommended cardiac therapies. The underlying causes of this gap in guideline adherence are complex but correcting this deficiency represent a significant opportunity to improve the clinical management of dystrophic cardiomyopathy.
杜氏肌营养不良症是一种严重的肌肉疾病，其特征是肌肉恶化和心肌病。心肌病本质上是进行性的，表现为心肌瘢痕形成和收缩功能丧失。几乎所有患有杜氏肌营养不良症的人都存在心脏功能障碍，<10 岁的患者就已经出现明显的心脏功能障碍。鉴于预防性治疗的重要性，临床指南建议在 10 岁时开始对杜氏肌营养不良症患者的心脏病进行治疗，即使在没有心脏功能障碍的情况下也是如此。本文评估了治疗营养不良性心肌病的现行做法。我们利用肌肉萎缩症协会汇编的临床数据来评估对指南变化的反应，评估杜氏肌营养不良症患者心脏病的医学治疗管理的变化。我们发现，自新指南发布以来，接受心脏定向治疗的杜氏肌营养不良症患者开始接受治疗的年龄明显更小。然而，我们发现 64%的杜氏肌营养不良症患者没有接受推荐的心脏治疗。这种遵循指南的差距的根本原因很复杂，但纠正这一不足是改善营养不良性心肌病临床管理的一个重要机会。
