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...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 the family’s first child.Targeted DNA analysis showed that the fetus carried the same biallelic PLD1 variants as their older sibling.This case helps to further delineate the clinical spectrum of PLD1-related defects and highlights the value of both genome sequencing in congenital heart disease and early fetal echocardiography to establish phenotype.展开更多
基金This work was funded by the Ted Rogers Centre for Heart Research.
文摘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 the family’s first child.Targeted DNA analysis showed that the fetus carried the same biallelic PLD1 variants as their older sibling.This case helps to further delineate the clinical spectrum of PLD1-related defects and highlights the value of both genome sequencing in congenital heart disease and early fetal echocardiography to establish phenotype.
