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Cardiomyopathies Due to Left Ventricular Noncompaction, Mitochondrial and Storage Diseases, and Inborn Errors of Metabolism
Circulation Research ( IF 20.1 ) Pub Date : 2017-09-15 , DOI: 10.1161/circresaha.117.310987
Jeffrey A. Towbin 1 , John Lynn Jefferies 1
Affiliation  

The normal function of the human myocardium requires the proper generation and utilization of energy and relies on a series of complex metabolic processes to achieve this normal function. When metabolic processes fail to work properly or effectively, heart muscle dysfunction can occur with or without accompanying functional abnormalities of other organ systems, particularly skeletal muscle. These metabolic derangements can result in structural, functional, and infiltrative deficiencies of the heart muscle. Mitochondrial and enzyme defects predominate as disease-related etiologies. In this review, left ventricular noncompaction cardiomyopathy, which is often caused by mutations in sarcomere and cytoskeletal proteins and is also associated with metabolic abnormalities, is discussed. In addition, cardiomyopathies resulting from mitochondrial dysfunction, metabolic abnormalities, storage diseases, and inborn errors of metabolism are described.


中文翻译:

因左心室不紧致,线粒体和贮积病以及先天性代谢错误而引起的心肌病

人心肌的正常功能需要适当的能量产生和利用,并依靠一系列复杂的代谢过程来实现这一正常功能。当新陈代谢过程无法正常或有效进行时,可能会伴有或不伴有其他器官系统(尤其是骨骼肌)功能异常的心肌功能障碍。这些代谢紊乱可导致心肌的结构,功能和浸润缺陷。线粒体和酶缺陷是与疾病相关的病因。在这篇综述中,讨论了通常由肌小节和细胞骨架蛋白突变引起的左心室非紧致性心肌病,也与代谢异常有关。此外,
更新日期:2017-09-15
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