Document Detail

Genetic mutations and mechanisms in dilated cardiomyopathy.
MedLine Citation:
PMID:  23281406     Owner:  NLM     Status:  MEDLINE    
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.
Elizabeth M McNally; Jessica R Golbus; Megan J Puckelwartz
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review     Date:  2013-01-02
Journal Detail:
Title:  The Journal of clinical investigation     Volume:  123     ISSN:  1558-8238     ISO Abbreviation:  J. Clin. Invest.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-01-02     Completed Date:  2013-03-11     Revised Date:  2014-01-09    
Medline Journal Info:
Nlm Unique ID:  7802877     Medline TA:  J Clin Invest     Country:  United States    
Other Details:
Languages:  eng     Pagination:  19-26     Citation Subset:  AIM; IM    
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MeSH Terms
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
Mitochondria / genetics*,  metabolism,  pathology
Myocardium / metabolism,  pathology
Myosin Heavy Chains / genetics*,  metabolism
Sarcomeres / genetics,  metabolism,  pathology
Grant Support
Reg. No./Substance:
0/Calcium-Binding Proteins; 0/Carrier Proteins; 0/MYH7 protein, human; 0/myosin-binding protein C; EC 3.6.1.-/Cardiac Myosins; EC Heavy Chains

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