Establishing Basic Science-Clinical Collaborations to Understand the Molecular Mechanisms of Heterotaxy

Congenital heart disease (CHD) is the most common birth defect that affects nearly 1 in 100 liveborn infants. Heterotaxy (HTX) is a severe form affecting 3-4% of CHD patients where left- right (LR) asymmetry of internal organs is not established correctly. Epidemiological studies suggest that genetics plays a significant role in CHD. Uncovering the genetic pathogenesis for

CHD is essential to provide a more accurate prognosis for CHD-related interventions, assess the risk for neurodevelopmental delays, and counsel families about recurrence risks. However, infants that undergo clinical genetic testing, known mutations and genes that cause CHD are identified in