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为区域心力衰竭护理将遗传学情境化。

Contextualizing Genetics for Regional Heart Failure Care.

作者信息

Iyngkaran Pupalan, Thomas Merlin C, Johnson Renee, French John, Ilton Marcus, McDonald Peter, Hare David L, Fatkin Diane

机构信息

Flinders University, NT Medical School, Darwin Australia.

出版信息

Curr Cardiol Rev. 2016;12(3):231-42. doi: 10.2174/1573403x12666160606123103.

Abstract

Congestive heart failure (CHF) is a chronic and often devastating cardiovascular disorder with no cure. There has been much advancement in the last two decades that has seen improvements in morbidity and mortality. Clinicians have also noted variations in the responses to therapies. More detailed observations also point to clusters of diseases, phenotypic groupings, unusual severity and the rates at which CHF occurs. Medical genetics is playing an increasingly important role in answering some of these observations. This developing field in many respects provides more information than is currently clinically applicable. This includes making sense of the established single gene mutations or uncommon private mutations. In this thematic series which discusses the many factors that could be relevant for CHF care, once established treatments are available in the communities; this section addresses a contextual role for medical genetics.

摘要

充血性心力衰竭(CHF)是一种慢性且往往具有毁灭性的心血管疾病,无法治愈。在过去二十年中取得了很大进展,发病率和死亡率有所改善。临床医生也注意到对治疗的反应存在差异。更详细的观察还指出了疾病集群、表型分组、异常严重程度以及CHF的发生速率。医学遗传学在回答其中一些观察结果方面发挥着越来越重要的作用。这个不断发展的领域在许多方面提供的信息比目前临床上适用的信息更多。这包括理解已确定的单基因突变或罕见的私人突变。在这个讨论CHF护理可能相关的诸多因素的专题系列中,一旦社区有了既定的治疗方法;本节将探讨医学遗传学的背景作用。

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