期刊
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
卷 1832, 期 12, 页码 2451-2461出版社
ELSEVIER
DOI: 10.1016/j.bbadis.2012.12.012
关键词
Heart failure; Genetics; Candidate gene study; GWAS; High-throughput sequencing; Cardiomyopathy
资金
- Gulbenkian Doctoral Programme for Advanced Medical Education
- Fundacao Calouste Gulbenkian
- Fundacao Champalimaud
- Ministerio da Saude
- Fundacao para a Ciencia e Tecnologia, Portugal
Heart failure (HF) occurs when the cardiac output, no longer compensated by endogenous mechanisms, fails to meet the metabolic demands of the body. In most populations, the prevalence of heart failure continues to rise, constituting a major public health burden, especially in developed countries. There is some evidence that the risk of HF in the general population depends on genetic predisposition, necessarily characterised by a very complex architecture. In a small, but probably underestimated proportion, HF is caused by Mendelian inherited forms of myocardial disease. The genetic background of these genetic conditions is a matter of intensive research that is already shedding light onto the genetics of common sporadic forms of HF. In this review, we briefly review the insights provided by candidate gene and genome-wide association approaches in common HF and then describe the main genetic causes of inherited heart muscle disease. Finally we present the current challenges and future research needs for both forms of HF. This article is part of a Special Issue entitled: Heart failure pathogenesis and emerging diagnostic and therapeutic interventions. (C) 2013 Elsevier B.V. All rights reserved.
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