The Department of Pediatrics, Ohio State University College of Medicine, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA.
The Department of Pediatrics, Ohio State University College of Medicine, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA.
Neuromuscul Disord. 2018 Sep;28(9):711-716. doi: 10.1016/j.nmd.2018.06.014. Epub 2018 Jul 6.
Patients with Duchenne muscular dystrophy suffer debilitating muscle destruction, resulting in loss of ambulation, diminished respiratory function, gastrointestinal disturbances and cardiomyopathy. Although it is the most common cause of death in these patients, cardiomyopathy is poorly understood in terms of distinct pathogenesis, natural history, and specific, effective therapeutic interventions. We review the state-of-the-art knowledge of Duchenne muscular dystrophy-associated cardiomyopathy including clinical evaluation, imaging, medical and perioperative management, and prospects for gene therapy. We also review cardiomyopathy in heterozygote carriers. By describing our current understanding and best practices, we hope to improve harmonization of care across institutions and identify collective knowledge gaps to guide future research efforts.
杜氏肌营养不良症患者会遭受严重的肌肉破坏，导致行动能力丧失、呼吸功能下降、胃肠道紊乱和心肌病。尽管它是这些患者最常见的死亡原因，但在发病机制、自然病史和具体、有效的治疗干预方面，心肌病的认识还很有限。我们综述了杜氏肌营养不良症相关心肌病的最新知识，包括临床评估、影像学、医学和围手术期管理，以及基因治疗的前景。我们还综述了杂合子携带者的心肌病。通过描述我们目前的认识和最佳实践，我们希望改善机构间护理的协调，并确定集体知识差距，以指导未来的研究工作。
