The complex genetics of hypoplastic left heart syndrome

Cecilia Lo and colleagues report the recovery of mice with hypoplastic left heart syndrome (HLHS) from a large mutagenesis screen. They find genetic heterogeneity among HLHS mice and functionally validate mutations in two genes, Sap130 and Pcdha, as contributing to HLHS in a combinatorial manner. Congenital heart disease (CHD) affects up to 1% of live births1. Although a genetic etiology is indicated by an increased recurrence risk2,3, sporadic...