Contemporary cardiac issues in Duchenne muscular dystrophy. Working Group of the National Heart, Lung, and Blood Institute in collaboration with Parent Project Muscular Dystrophy.
Contemporary cardiac issues in Duchenne muscular dystrophy. Working Group of the National Heart, Lung, and Blood Institute in collaboration with Parent Project Muscular Dystrophy.
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DOI：
10.1161/circulationaha.114.015151
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发表时间：
2015-05-05
期刊：
影响因子：
37.8
通讯作者：
Parent Project Muscular Dystrophy
中科院分区：
文献类型：
--
作者：
McNally EM;Kaltman JR;Benson DW;Canter CE;Cripe LH;Duan D;Finder JD;Groh WJ;Hoffman EP;Judge DP;Kertesz N;Kinnett K;Kirsch R;Metzger JM;Pearson GD;Rafael-Fortney JA;Raman SV;Spurney CF;Targum SL;Wagner KR;Markham LW;Working Group of the National Heart, Lung, and Blood Institute;Parent Project Muscular Dystrophy
肌营养不良症，于2014年7月在马里兰州贝塞斯达召开了一次工作组会议，探讨与DMD患者心脏疾病相关的临床和研究问题。由于呼吸支持和糖皮质激素的使用，DMD患者的寿命更长，随着年龄的增长，相关的心肌病成为Duchenne患者管理关注的焦点。许多针对骨骼肌表型的实验药物正在进行DMD的临床试验，这些化合物对心脏功能的影响尚未得到很好的表征。该工作组由心脏病学、肺病学、神经病学、产品监管和患者倡导方面的专家组成。工作组根据现有文献和专家意见提出了临床和研究建议。此外，工作组确定了有待通过研究和临床界不断努力填补的知识空白。这些改善DMD心肌病诊断和管理的建议包括在临床护理和研究中使用CMR，特别是临床试验;需要更新方案以评估临床前模型中的心脏状况;以及开发协调的国际生物储存库以推进这种罕见遗传病的治疗和研究。
Muscular Dystrophy, convened a Working Group meeting on July 2014, in Bethesda, MD, to explore clinical and research questions related to cardiac disease in patients with DMD. As a result of respiratory support and glucocorticoid use, patients with DMD are living longer, bringing the associated cardiomyopathy to the forefront of management concern for Duchenne patients as they age. A number of experimental agents targeted to the skeletal muscle phenotype are in clinical trials for DMD, and the effect of these compounds on cardiac function has not been well characterized. The Working Group consisted of experts in cardiology, pulmonology, neurology, product regulation, and patient advocacy. The Working Group made clinical and research recommendations that are based on the current literature and expert opinion. Furthermore, the Working Group identified gaps in knowledge to be filled through ongoing efforts of the research and clinical communities. These recommendations to improve the diagnosis and management of cardiomyopathy in DMD included the use of CMR in clinical care and research, particularly clinical trials; the need for updated protocols to evaluate the cardiac condition in preclinical models; and the development of coordinated international biorepositories to advance treatment and research for this rare genetic disease (Table).