Genetics of valvular heart disease.
Genetics of valvular heart disease.
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DOI：
10.1007/s11886-014-0487-2
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发表时间：
2014
影响因子：
3.7
通讯作者：
Garg V
中科院分区：
文献类型：
--
作者：
LaHaye S;Lincoln J;Garg V
心脏瓣膜病与显著的发病率和死亡率相关，并且通常是先天性畸形的结果。然而，成人中的患病率正在增加，不仅是因为人口老龄化的不断增长，而且还因为先天性心脏瓣膜缺陷儿童的医疗和手术护理的改善。人类基因组计划的成功和遗传技术的重大进展，加上我们对心脏瓣膜发育的理解的增加，导致了许多心脏瓣膜疾病的遗传因素的发现。这些已被发现使用各种方法，包括检查家族性瓣膜病和全基因组关联研究调查散发病例。本文将讨论这些发现及其在心脏瓣膜病治疗中的意义。
Valvular heart disease is associated with significant morbidity and mortality and often the result of congenital malformations. However, the prevalence is increasing in adults not only because of the growing aging population, but also because of improvements in the medical and surgical care of children with congenital heart valve defects. The success of the Human Genome Project and major advances in genetic technologies, in combination with our increased understanding of heart valve development, has led to the discovery of numerous genetic contributors to heart valve disease. These have been uncovered using a variety of approaches including the examination of familial valve disease and genome-wide association studies to investigate sporadic cases. This review will discuss these findings and their implications in the treatment of valvular heart disease.