Developmental origins for semilunar valve stenosis identified in mice harboring congenital heart disease-associated GATA4 mutation.

ABSTRACT: Congenital heart defects affect ∼2% of live births and often involve malformations of the semilunar (aortic and pulmonic) valves. We previously reported a highly penetrant GATA4 p.Gly296Ser mutation in familial, congenital atrial septal defects and pulmonic valve stenosis and showed that mice harboring the orthologous G295S disease-causing mutation display not only atrial septal defects, but also semilunar valve stenosis. Here, we aimed to characterize the role of Gata4 in semilunar valve development and stenosis using the Gata4^G295Ski/wt mouse model. GATA4 is highly expressed in developing valve endothelial and interstitial cells. Echocardiographic examination of Gata4^G295Ski/wt mice at 2 months and 1 year of age identified functional semilunar v

SUBMITTER: LaHaye S 

PROVIDER: S-EPMC6602309 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature