@Article{chd.2023.023042,
AUTHOR = {Cherith Somerville, Kelsey Kalbfleisch, Roozbeh Manshaei, Qiliang Ding, John B.A. Okello, Rachel Silver, David Chitayat, Varsha Thakur, Olivier Villemain, Rebekah Jobling},
TITLE = {Compound Heterozygous <i>PLD1</i> Variants in Right-Sided Heart Malformations},
JOURNAL = {Structural and Congenital Heart Disease},
VOLUME = {18},
YEAR = {2023},
NUMBER = {2},
PAGES = {213--218},
URL = {http://www.techscience.com/schd/v18n2/51956},
ISSN = {3071-1738},
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 <i>PLD1</i>. 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 <i>PLD1</i> variants as their older sibling. This case helps to further delineate the clinical spectrum of <i>PLD1</i>-related defects and highlights the value of both genome sequencing in congenital heart disease and early fetal echocardiography to establish phenotype.},
DOI = {10.32604/chd.2023.023042}
}