Cardiac development and perinatal care of infants with neural crest-associated conotruncal defects

The neural crest constitutes a developmental field which is a morphogenetically reactive unit of the embryo. Disruption of this developmental field causes a constellation of anomalies to occur. Clustering of phenotypic abnormalities has allowed clinicians to recognize neural crest-associated syndromes with developmental abnormalities of the cardiovascular system, head, and neck. Basic research is beginning to unravel how these phenotypic characteristics are related to specific gene defects expressed during development. Currently, we do not know a one-to-one relationship between phenotypes and genotypes. These neonates with neural crest-associated conotruncal defects are born with recognizable complex cyanotic heart defects that are ductal-dependent. It may be difficult to judge if they have DiGeorge or velocardiofacial syndromes; thus, genetic counseling is of importance. Besides their life-threatening cardiovascular defects, these neonates frequently have either transient or persistent hypocalcemia or severe immunodeficiencies that require critical care management. This review will focus on the basic research underpinnings and currently recommended clinical care of infants with neural crest-associated conotruncal defects.