Compound Heterozygous PLD1 Variants in Right-Sided Heart Malformations  

作　　者：Cherith Somerville Kelsey Kalbfleisch Roozbeh Manshaei Qiliang Ding John B.A.Okello Rachel Silver David Chitayat Varsha Thakur Olivier Villemain Rebekah Jobling 

机构地区：[1]Ted Rogers Centre for Heart Research,Cardiac Genome Clinic,The Hospital for Sick Children,University of Toronto,Toronto,Canada [2]Department of Paediatrics,Division of Clinical and Metabolic Genetics,The Hospital for Sick Children,University of Toronto,Toronto,Canada [3]MIT Sloan School of Management,Massachusetts Institute of Technology,Cambridge,USA [4]The Prenatal Diagnosis and Medical Genetics Program,Mount Sinai Hospital,University of Toronto,Toronto,Canada [5]Department of Paediatrics,Division of Cardiology,The Hospital for Sick Children,University of Toronto,Toronto,Canada [6]Department of Medical Biophysics,University of Toronto,Toronto,Canada [7]Department of Paediatrics,Translations Medicine Department,SickKids Research Institute,University of Toronto,Toronto,Canada [8]Department of Paediatric Laboratory Medicine,Genome Diagnostics,The Hospital for Sick Children,Toronto,Canada

出　　处：《Congenital Heart Disease》2023年第2期213-218,共6页先天性心脏病（英文）

基　　金：This work was funded by the Ted Rogers Centre for Heart Research.

摘　　要：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.

关 键 词：Genome sequencing PLD1 fetal echocardiogram right ventricular malformation congenital valve defects 

分 类 号：R541[医药卫生—心血管疾病]