ERBB2 R599C variant is associated with left ventricular outflow tract obstruction defects in human

Non-syndromic congenital heart defects (CHD) are occasionally familial and left ventricular out flow tract obstruction (LVOTO) defects are among the subtypes with the highest hereditability. The aim of this study was to evaluate the pathogenicity of a heterozygous ERBB2 variant R599C identified in three families with LVOTO defects. Overall design: To examine the difference in expressed genes between ErBB2-mutation cells and wild types we created four hIPS-cell lines, which were differentiated into endothelial cells.