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: