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,*

Congenital Heart Disease, Vol.18, No.2, pp. 213-218, 2023, DOI: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. More >

Mohd Nizam Mat Bah^*, Mohd Hanafi Sapian, Hasliza Razak, Emieliyuza Yusnita Alias

Congenital Heart Disease, Vol.15, No.4, pp. 203-216, 2020, DOI:10.32604/CHD.2020.013057

Abstract Introduction: Fetal echocardiogram allows early detection of critical congenital heart disease leading to a better outcome. However, data from lowerand middle-income countries is scarce. This study aims to evaluate the diagnostic error of fetal echocardiography and its impact on planned neonatal management. Methods and material: This retrospective observational cohort study includes all high-risk pregnant mothers who had fetal echocardiograms from 2008 to 2017. Fetal and postnatal echocardiograms were compared, while the diagnostic errors were categorized into false positive, false negative, and discrepant diagnoses. The impact of the diagnostic error on planned neonatal management and the long-term outcome was determined by… More >