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Where genome meets phenome: rationale for integrating genetic and protein biomarkers in the diagnosis and management of dilated cardiomyopathy and heart failure.
- Source :
-
Journal of the American College of Cardiology [J Am Coll Cardiol] 2012 Jul 24; Vol. 60 (4), pp. 283-9. - Publication Year :
- 2012
-
Abstract
- This review provides the rationale for integrating genomic and protein biomarkers in the evolving diagnosis and management of dilated cardiomyopathy (DCM) and its causal pathway to heart failure (HF), with a larger objective to serve as a template for genomic and phenomic profiling of other cardiovascular disease. DCM is a major cause of HF and accounts for more than half of heart transplantation in adults and children worldwide. DCM may remain asymptomatic for years, but HF and/or arrhythmias, both late manifestations of the disease, ultimately cause significant morbidity and mortality. A significant proportion of DCM has a genetic etiology. DCM can also result from environmental injury such as infection, toxins, or catecholamine excess. While molecular genetic testing can identify those at risk for genetic DCM, epigenetic and sentinel phenomic staging can help to identify those at highest risk in need for intervention. Phenomic staging includes integrating clinical and imaging features, transcriptomics, higher order proteomics and metabolomics interactions, and epidemiological data. This principle can be applied in family members of patients with DCM, where genetic testing and clinical phenotyping are indicated. This will allow the design of specific interventions tailored to individuals sharing similar risks, to alter the natural history of DCM and obviate complications such as HF/arrhythmias.<br /> (Copyright © 2012 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.)
- Subjects :
- Adult
Animals
Cardiomyopathy, Dilated therapy
Disease Progression
Epigenomics
Gene Expression Regulation genetics
Genetic Predisposition to Disease genetics
Heart Failure therapy
Humans
Interleukin-1 Receptor-Like 1 Protein
Matrix Metalloproteinases blood
Mice
Natriuretic Peptide, Brain blood
Precision Medicine
Proteomics
Receptors, Cell Surface blood
Risk Assessment
Biomarkers blood
Cardiomyopathy, Dilated diagnosis
Cardiomyopathy, Dilated genetics
Genome-Wide Association Study
Heart Failure diagnosis
Heart Failure genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1558-3597
- Volume :
- 60
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Journal of the American College of Cardiology
- Publication Type :
- Academic Journal
- Accession number :
- 22813604
- Full Text :
- https://doi.org/10.1016/j.jacc.2012.05.005