Molecular Mechnanismus of Hypoplastic Left Heart Syndrome (HLHS)

Hypoplastic left heart syndrome (HLHS) displays one of the most severe cardiac malformations that encompasses a spectrum of structural defects characterized by atresia or stenosis of the aortic and mitral valve, as well as a hypoplasia of the left ventricle and aorta. In order to analyze genetic and transcriptomic changes potentially involved in the pathogenesis of HLHS, whole exome sequencing and RNA sequencing is performed on heart tissue samples from independent cases. To evaluate epigenetic alterations, DNA methylation profiles are being analyzed. Identified candidate genes are characterized using zebrafish model organism and furthermore, patient-specific inducible pluripotent stem cells are analyzed to provide a contribution for a better understanding of the etiology of HLHS.