作者
Elizabeth M McNally, Jessica R Golbus, Megan J Puckelwartz
发表日期
2013/1/2
来源
The Journal of clinical investigation
卷号
123
期号
1
页码范围
19-26
出版商
American Society for Clinical Investigation
简介
Genetic mutations account for a significant percentage of cardiomyopathies, which are a leading cause of congestive heart failure. In hypertrophic cardiomyopathy (HCM), cardiac output is limited by the thickened myocardium through impaired filling and outflow. Mutations in the genes encoding the thick filament components myosin heavy chain and myosin binding protein C (MYH7 and MYBPC3) together explain 75% of inherited HCMs, leading to the observation that HCM is a disease of the sarcomere. Many mutations are “private” or rare variants, often unique to families. In contrast, dilated cardiomyopathy (DCM) is far more genetically heterogeneous, with mutations in genes encoding cytoskeletal, nucleoskeletal, mitochondrial, and calcium-handling proteins. DCM is characterized by enlarged ventricular dimensions and impaired systolic and diastolic function. Private mutations account for most DCMs, with few …
引用总数
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学术搜索中的文章
EM McNally, JR Golbus, MJ Puckelwartz - The Journal of clinical investigation, 2013