Cherith Somerville1,2, Kelsey Kalbfleisch1,2, Roozbeh Manshaei1,2, Qiliang Ding1,2, John B.A. Okello1,2,3, Rachel Silver4, David Chitayat2,4, Varsha Thakur5, Olivier Villemain5,6,7, Rebekah Jobling1,2,8,*
Congenital Heart Disease, Vol.18, No.2, pp. 213-218, 2023, DOI:10.32604/chd.2023.023042
Abstract 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. More >
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