Mesh : Humans Coronary Vessel Anomalies / genetics Genetic Predisposition to Disease / genetics Heart Defects, Congenital / genetics

来  源:   DOI:10.1007/978-3-031-44087-8_48

Abstract:
The genetics of human congenital coronary vascular anomalies (hCCVA) remains largely underresearched. This is surprising, because although coronary vascular defects represent a relatively small proportion of human congenital heart disease (CHD), hCCVAs are clinically significant conditions. Indeed, hCCVA frequently associate to other congenital cardiac structural defects and may even result in sudden cardiac death in the adult. In this brief chapter, we will attempt to summarize our current knowledge on the topic, also proposing a rationale for the development of novel approaches to the genetics of hCCVA.
摘要:
人类先天性冠状动脉血管异常(hCCVA)的遗传学仍未得到充分研究。这令人惊讶,因为尽管冠状动脉血管缺陷在人类先天性心脏病(CHD)中所占比例相对较小,hCCVA是临床上重要的病症。的确,hCCVA经常与其他先天性心脏结构缺陷相关,甚至可能导致成人心脏猝死。在这个简短的章节中,我们将尝试总结我们目前关于这个主题的知识,还提出了开发hCCVA遗传学新方法的理由。
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