Impact of Mendelian inheritance in cardiovascular disease.
Impact of Mendelian inheritance in cardiovascular disease.
复制标题
孟德尔遗传对心血管疾病的影响。
DOI：
10.1111/j.1749-6632.2010.05791.x
复制
发表时间：
2010
影响因子：
5.2
通讯作者：
Garg,Vidu
中科院分区：
文献类型：
--
作者：
McBride,KimL;Garg,Vidu
心血管疾病是全世界死亡的主要原因。虽然大多数心血管疾病的病因被认为是遗传和环境因素的结合，但通过研究表现出孟德尔遗传形式的心脏病的发现，对心脏疾病的基础生物学的理解已经取得了很大进展。这些疾病中的大多数主要影响儿童和年轻人，包括心肌病、心律失常、主动脉瘤和先天性心脏病。这些疾病的遗传病因的发现对我们理解更复杂形式的心血管疾病产生了重大影响，并在某些情况下导致了新的诊断和治疗方式。在这篇综述中，我们将总结这些开创性的遗传学发现，突出一些对人类疾病产生重大影响的发现，并讨论随着新遗传技术的发展和我们对人类基因组的了解的增加，研究孟德尔遗传性心脏病的潜在效用。
Cardiovascular disease is a leading cause of mortality worldwide. While the etiology for the majority of cardiovascular disease is presumed to be a combination of genetic and environmental factors, developments in understanding the basic biology of cardiac disorders have been greatly advanced through discoveries made studying heart diseases that exhibit Mendelian forms of inheritance. Most of these diseases primarily affect children and young adults and include cardiomyopathies, arrhythmias, aortic aneurysms, and congenital heart defects. The discovery of the genetic etiologies for these diseases have had significant impact on our understanding of more complex forms of cardiovascular disease and in some cases have led to novel diagnostic and treatment modalities. In this review, we will summarize these seminal genetic discoveries, highlighting a few that have resulted in significant impact on human disease, and discuss the potential utility of studying Mendelian‐inherited heart disease with the development of new genetic technologies and our increased understanding of the human genome.