Lopes Luís R, Elliott Perry M
UCL Institute of Cardiovascular Science, London, UK.
Biochim Biophys Acta. 2013 Dec;1832(12):2451-61. doi: 10.1016/j.bbadis.2012.12.012. Epub 2013 Jan 6.
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.
当心输出量不再能通过内源性机制得到代偿，无法满足机体代谢需求时，心力衰竭（HF）就会发生。在大多数人群中，心力衰竭的患病率持续上升，构成了一项重大的公共卫生负担，在发达国家尤为如此。有证据表明，普通人群中发生心力衰竭的风险取决于遗传易感性，其必然具有非常复杂的结构。在一小部分可能被低估的人群中，心力衰竭是由孟德尔遗传形式的心肌病引起的。这些遗传疾病的遗传背景是深入研究的课题，目前已经为常见散发性心力衰竭的遗传学研究提供了线索。在本综述中，我们简要回顾了候选基因和全基因组关联研究方法在常见心力衰竭研究中所提供的见解，然后描述遗传性心肌疾病的主要遗传病因。最后，我们阐述了这两种类型心力衰竭目前面临的挑战以及未来的研究需求。本文是名为“心力衰竭的发病机制及新兴诊断和治疗干预措施”的特刊的一部分。
