Characterization of a Novel Mouse Model for Congenital Heart Disease and Heterotaxy

Lay Summary: Defects in Left-Right patterning of the embryo lead to a disorder termed heterotaxy (Htx) and >90% of individuals with Htx will develop severe congenital heart disease. The genetics of Htx is complex and genetic mutations have been identified in only ~10-20% of cases. Thanks to the generous support from the Saving Tiny Hearts Society, we are characterizing a mutation in a novel gene that causes Htx. The identification and characterization of new genetic mutations that cause disease is highly informative to the understanding of Htx, and hopefully in the future will contribute to the treatment or prevention of disease in children.