Notably, GATA4 has a crucial role in the developing diaphragm, and its reduced expression has been linked to CDH.7 The chromosome 8p23.1 microdeletion encompassing GATA4 is a well-recognised cause of congenital heart defects and diaphragmatic hernia, contributing to 3-5% of CDH cases.2,8GATA4 is considered the candidate gene for CDH in recurrent 8p23.1 microdeletions.2,8, , -11 In contrast, GATA4 sequence variants are a rare cause of CDH.2,12. Here, GATA4 is linked to congenital diaphragmatic hernia.