Lahrouchi et al. (2021) identified 30 patients with PLD1 variants who presented predominantly with congenital cardiac valve defects. Cai et al. (2023) identified novel variants of PLD1 gene in a Chinese family with recurrent fetal congenital heart defects. Theses published work related to PLD1 gene strongly supports the pathogenic role of these variants in CHD. The gene discussed is PLD1; the disease is congenital heart disease.