Compound Heterozygous PLD1 Variants in Right-Sided Heart Malformations

We report a three-year-old male child who presented with congenital valvular defects, right ventricular malformation, and initial developmental delay. Genome sequencing showed rare deleterious biallelic missense variants in PLD1. In his parents’ second pregnancy, echocardiogram at 13 weeks gestation revealed right-sided cardiac malformations resembling the clinical presentation of family’s first child. Targeted DNA analysis that fetus carried same PLD1 as their older sibling. This case helps to further delineate spectrum PLD1-related defects highlights value both genome heart disease early fetal echocardiography establish phenotype.