Journal
FETAL AND PEDIATRIC PATHOLOGY
Volume 42, Issue 1, Pages 103-109Publisher
TAYLOR & FRANCIS INC
DOI: 10.1080/15513815.2022.2058660
Keywords
PLD1; right heart developmental defect; non-immune fetal hydrops; exome sequencing; fetal autopsy
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This study presented a case of NIFH with a PLD1 associated right heart malformation. Detailed analysis through fetopsy and genetic evaluation provided an etiological explanation and further confirmed the association between PLD1 gene variants and developmental right heart defects.
Background: Non-immune fetal hydrops (NIFH) is an etiologically heterogeneous condition. Cardiac anomalies are one of the common causes of NIFH. Cardiac anomalies can be isolated, multifactorial malformations or have a genetic basis. PLD1 variants have been associated with developmental defects involving the right heart. We present a NIFH with a PLD1 associated right heart malformation. Case report: We describe a spontaneously aborted 14 weeks old NIFH fetus with a rudimentary right ventricle, pulmonary valve atresia and pulmonary artery stenosis found at fetopsy. After a normal microarray, whole exome sequencing revealed a homozygous missense variant c.2023 C > T (p. Arg675Trp) in the PLD1 gene. Conclusion: Detailed fetopsy and genetic evaluation in this NIFH allowed an etiological explanation, further corroborated the association of PLD1 gene variants and developmental right heart defects, and that this defect can be associated with NIHF.
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