心脏瓣膜病遗传学

Genetics of Valvular Heart Disease

摘要: 心脏瓣膜病伴有显著的发病率和死亡率，并且常是由于先天性畸形引起心脏瓣膜结构和功能异常，导致瓣口狭窄或关闭不全所致的。然而，成年人心脏瓣膜病患病率日益增加，不仅是因为老龄化日益严重，而且还因为先天性心脏瓣膜缺陷儿童的医疗和外科护理的改善。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了解越来越多，导致人们发现许多心脏瓣膜疾病的遗传因素。这些发现使用各种方法，包括家族性瓣膜病的检查和全基因组关联研究，以调查散发病例。本综述将讨论这些发现及其在瓣膜性心脏病治疗中的意义。

Abstract: Valvular heart disease is associated with significant morbidity and mortality, and is often caused by congenital malformations resulting in abnormal cardiac valve structure and function, resulting in stenosis or insufficiency of the valve. However, the prevalence of valvular heart disease in adults is increasing, not only because of the growing aging, but also because of the improvement of medical and surgical care for children with congenital heart valve defects. The success of genomics project and the great progress of genetic technology, and our increasing understanding of cardiac valve development have led to the discovery of many genetic factors of heart valve disease. These findings use a variety of methods, including familial valvular disease examination and genome wide association studies to investigate sporadic cases. This review will discuss these findings and their significance in the treatment of valvular heart disease.