Open Access

CASE REPORT

Compound Heterozygous PLD1 Variants in Right-Sided Heart Malformations

Cherith Somerville^1,2, Kelsey Kalbfleisch^1,2, Roozbeh Manshaei^1,2, Qiliang Ding^1,2, John B.A. Okello^1,2,3, Rachel Silver⁴, David Chitayat^2,4, Varsha Thakur⁵, Olivier Villemain^5,6,7, Rebekah Jobling^1,2,8,*

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

* Corresponding Author: Rebekah Jobling. Email:

Congenital Heart Disease 2023, 18(2), 213-218. https://doi.org/10.32604/chd.2023.023042

Received 06 August 2022; Accepted 27 December 2022; Issue published 15 March 2023

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.

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Keywords

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