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心血管基因组学。

Cardiovascular genomics.

机构信息

The University of Arizona, Tucson, AZ, USA.

出版信息

J Nurs Scholarsh. 2013 Mar;45(1):60-8. doi: 10.1111/jnu.12002. Epub 2013 Jan 31.

Abstract

PURPOSE

This article provides an update on cardiovascular genomics using three clinically relevant exemplars, including myocardial infarction (MI) and coronary artery disease (CAD), stroke, and sudden cardiac death (SCD). ORGANIZATIONAL CONSTRUCT: Recent advances in cardiovascular genomic research, testing, and clinical implications are presented.

METHODS

Genomic nurse experts reviewed and summarized recent salient literature to provide updates on three selected cardiovascular genomic conditions.

FINDINGS

Research is ongoing to discover comprehensive genetic markers contributing to many common forms of cardiovascular disease (CVD), including MI and stroke. However, genomic technologies are increasingly being used clinically, particularly in patients with long QT syndrome (LQTS) or hypertrophic cardiomyopathy (HCM) who are at risk for SCD.

CONCLUSIONS

Currently, there are no clinically recommended genetic tests for many common forms of CVD even though direct-to-consumer genetic tests are being marketed to healthcare providers and the general public. On the other hand, genetic testing for patients with certain single gene conditions, including channelopathies (e.g., LQTS) and cardiomyopathies (e.g., HCM), is recommended clinically.

CLINICAL RELEVANCE

Nurses play a pivotal role in cardiogenetics and are actively engaged in direct clinical care of patients and families with a wide variety of heritable conditions. It is important for nurses to understand current development of cardiovascular genomics and be prepared to translate the new genomic knowledge into practice.

摘要

目的

本文通过三个临床相关范例,包括心肌梗死(MI)和冠状动脉疾病(CAD)、中风和心源性猝死(SCD),提供心血管基因组学的最新进展。

组织结构

介绍了心血管基因组研究、检测和临床应用的最新进展。

方法

基因组护士专家回顾和总结了最近的相关文献,提供了三个选定的心血管基因组条件的最新信息。

发现

目前正在研究发现导致许多常见心血管疾病(CVD)的综合遗传标记,包括 MI 和中风。然而,基因组技术越来越多地在临床上使用,特别是在患有长 QT 综合征(LQTS)或肥厚型心肌病(HCM)、有 SCD 风险的患者中。

结论

目前,尽管向医疗保健提供者和公众推销直接面向消费者的基因检测,但许多常见 CVD 形式仍没有临床推荐的基因检测。另一方面,对于患有某些单基因疾病的患者,包括通道病(如 LQTS)和心肌病(如 HCM),临床推荐进行基因检测。

临床相关性

护士在心脏遗传学中发挥着关键作用,积极参与各种遗传性疾病患者及其家庭的直接临床护理。护士了解心血管基因组学的最新发展并准备将新的基因组知识转化为实践非常重要。

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