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Compound Heterozygous PLD1 Variants in Right-Sided Heart Malformations

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,*

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: email

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

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APA Style
Somerville, C., Kalbfleisch, K., Manshaei, R., Ding, Q., Okello, J.B. et al. (2023). Compound heterozygous pld1 variants in right-sided heart malformations. Congenital Heart Disease, 18(2), 213-218. https://doi.org/10.32604/chd.2023.023042
Vancouver Style
Somerville C, Kalbfleisch K, Manshaei R, Ding Q, Okello JB, Silver R, et al. Compound heterozygous pld1 variants in right-sided heart malformations. Congeni Heart Dis. 2023;18(2):213-218 https://doi.org/10.32604/chd.2023.023042
IEEE Style
C. Somerville et al., "Compound Heterozygous PLD1 Variants in Right-Sided Heart Malformations," Congeni. Heart Dis., vol. 18, no. 2, pp. 213-218. 2023. https://doi.org/10.32604/chd.2023.023042



cc This work is licensed under a Creative Commons Attribution 4.0 International License , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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