Deep phenotyping, comprehensive genomic studies and investigationsinto pathomechanisms of congenital heart defects

heart defect (CHD) is the most prevalent birth defect leading to significant morbidity and mortality in children. Chromosomal abnormalities, copy number variations and monogenic defects constitute genomic alterations underlying CHD. Accurate evaluation, understanding of the disease phenotypes, and obtaining a diagnosis play a major role in prognostication and management of the condition in affected families. However, only a small proportion of patients receive a diagnosis despite extensive evaluation. In this study, we propose to perform detailed phenotyping, genetic workup and functional evaluation variants in families with abortuses (fetuses) and children with congenital heart defects by using chromosomal microarray and exome sequencing and whole genome sequencing in limited families. We aim to better understand the anatomy and embryology of CHD, the underlying genetic burden of the disease, ultimately aiding informed counseling and management.