Frazier Lorraine, Johnson Rolanda L, Sparks Elizabeth
The University of Texas Health Science Center, Houston School of Nursing, Houston, TX, USA.
J Nurs Scholarsh. 2005;37(4):315-21. doi: 10.1111/j.1547-5069.2005.00055.x.
To describe genetic knowledge and discovery in the area of cardiovascular disease (CVD) and to discuss how these new advances will influence the clinical care of affected people.
A selective review of the literature is presented on the disease mechanism of both the Mendelian and multifactorial genetic cardiovascular conditions. A case study approach is used to illustrate how the genetic paradigm affects the healthcare experience of a family affected with familial hypertrophic cardiomyopathy.
The current state of CVD treatment remains complex. An understanding of genomic concepts and a genome-based approach is necessary to determine: (a) the risk of CVD susceptibility beyond traditional risk factors; (b) early detection of illness; (c) response to treatment; and (d) molecular taxonomy of the disease.
The results of genetic research, education, and teaching will lead to a new understanding of genes and pathways, resulting in powerful new therapeutic approaches to CVD. The challenge is to translate genetic discoveries into clinical practice that ultimately leads to preventing CVD and reducing mortality.
描述心血管疾病（CVD）领域的遗传学知识与发现，并探讨这些新进展将如何影响患者的临床护理。
对孟德尔遗传和多因素遗传心血管疾病的发病机制进行了文献综述。采用案例研究方法来说明遗传模式如何影响一个患有家族性肥厚型心肌病的家庭的医疗体验。
目前CVD的治疗情况仍然复杂。有必要了解基因组概念并采用基于基因组的方法来确定：（a）除传统风险因素外的CVD易感性风险；（b）疾病的早期检测；（c）对治疗的反应；以及（d）疾病的分子分类。
遗传学研究、教育和教学的结果将带来对基因和通路的新认识，从而产生针对CVD的强大新治疗方法。挑战在于将遗传学发现转化为临床实践，最终实现预防CVD和降低死亡率。
