| Genetic mutations and mechanisms in dilated cardiomyopathy. | |
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MedLine Citation:
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PMID: 23281406 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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 hotspots or recurring mutations. More than 50 single genes are linked to inherited DCM, including many genes that also link to HCM. Relatively few clinical clues guide the diagnosis of inherited DCM, but emerging evidence supports the use of genetic testing to identify those patients at risk for faster disease progression, congestive heart failure, and arrhythmia. |
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Authors:
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Elizabeth M McNally; Jessica R Golbus; Megan J Puckelwartz |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review Date: 2013-01-02 |
Journal Detail:
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Title: The Journal of clinical investigation Volume: 123 ISSN: 1558-8238 ISO Abbreviation: J. Clin. Invest. Publication Date: 2013 Jan |
Date Detail:
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Created Date: 2013-01-02 Completed Date: 2013-03-11 Revised Date: 2013-04-16 |
Medline Journal Info:
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Nlm Unique ID: 7802877 Medline TA: J Clin Invest Country: United States |
Other Details:
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Languages: eng Pagination: 19-26 Citation Subset: AIM; IM |
Affiliation:
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Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA. emcnally@uchicago.edu |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Animals Arrhythmias, Cardiac / etiology, genetics, metabolism, pathology, physiopathology Calcium-Binding Proteins / genetics*, metabolism Cardiac Myosins / genetics*, metabolism Cardiomyopathy, Dilated / complications, genetics*, metabolism, pathology, physiopathology Carrier Proteins / genetics*, metabolism Cytoskeleton / genetics*, metabolism, pathology Heart Failure / etiology, genetics, metabolism, pathology, physiopathology Humans Mitochondria / genetics*, metabolism, pathology Mutation* Myocardium / metabolism, pathology Myosin Heavy Chains / genetics*, metabolism Sarcomeres / genetics, metabolism, pathology |
| Grant Support | |
ID/Acronym/Agency:
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AR052646/AR/NIAMS NIH HHS; HL092443/HL/NHLBI NIH HHS; HL61322/HL/NHLBI NIH HHS; NS072027/NS/NINDS NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Calcium-Binding Proteins; 0/Carrier Proteins; 0/MYH7 protein, human; 0/Myosin Heavy Chains; 0/myosin-binding protein C; EC 3.6.1.-/Cardiac Myosins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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