期刊
FETAL AND PEDIATRIC PATHOLOGY
卷 42, 期 1, 页码 103-109出版社
TAYLOR & FRANCIS INC
DOI: 10.1080/15513815.2022.2058660
关键词
PLD1; right heart developmental defect; non-immune fetal hydrops; exome sequencing; fetal autopsy
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.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据