Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects.

ABSTRACT:

Background

The left ventricular outflow tract (LVOT) defects aortic valve stenosis (AVS), coarctation of the aorta (COA), and hypoplastic left heart syndrome (HLHS) represent an embryologically related group of congenital cardiovascular malformations. They are common and cause substantial morbidity and mortality. Prior evidence suggests a strong genetic component in their causation.

Methods

We selected NRG1, ERBB3, and ERBB4 of the epidermal growth factor receptor (EGFR) signaling pathway as candidate genes for investigation of association with LVOT defects based on the importance of this pathway in cardiac development and the phenotypes in knockout mouse models. Single nucleotide polymorphism (SNP) genotyping was performed on 343 affected case-parent trios of European ances

SUBMITTER: McBride KL 

PROVIDER: S-EPMC3736588 | biostudies-literature | 2011 Mar

REPOSITORIES: biostudies-literature