Molecular mechanisms of congenital heart disease in down syndrome

Genes Dis. 2019 Jul 8;6(4):372-377. doi: 10.1016/j.gendis.2019.06.007. eCollection 2019 Dec.

Abstract

Down syndrome (DS), as a typical genomic aneuploidy, is a common cause of various birth defects, among which is congenital heart disease (CHD). 40-60% neonates with DS have some kinds of CHD. However, the molecular pathogenic mechanisms of DS associated CHD are still not fully understood. This review summarizes available studies on DS associated CHD from seven aspects so as to provide a crucial and updated overview of what we known so far in this domain.

Keywords: Congenital heart disease; Down syndrome; Molecular mechanisms.

Publication types

  • Review