Qazi Waheed-Ullah

1 INTRODUCTION Congenital heart disease (CHD) is a structural defect that occurs due to a disruption to the normal morphogenesis of the heart. Collectively, it is the most common congenital anomaly and has a higher associated mortality than many other congenital defects, representing a major health issue (Ossa Galvis et al., 2023). The majority of CHD cases are associated with a genetic cause. This can include chromosomal or structural variants, as well as sequence variants.

1 INTRODUCTION Congenital heart disease (CHD) is the most common congenital defect in newborns (Kalisch-Smith et al., 2020; Liu et al., 2019). Genetic causes identified include chromosomal abnormalities, copy number variants and point mutations. Recent studies have used exome sequencing in large CHD cohorts to better understand the genetic contribution to CHD (Homsy et al., 2015; Jin et al., 2017; Richter et al., 2020; Sifrim et al., 2016; Zaidi et al., 2013).