CASE REPORT article
Front. Pediatr.
Sec. Pediatric Cardiology
Volume 13 - 2025 | doi: 10.3389/fped.2025.1352571
This article is part of the Research TopicNeonatal Cardiology and Cardiac Surgery in Congenital Heart Disease.View all 9 articles
Case Report: A Novel Compound Heterozygosity of EVC2 Gene Identified in A Chinese Pedigree with Congenital Heart Defect
Provisionally accepted
- 1Jinhua Maternity and Child Health Care Hospital, Jinhua, Zhejiang Province, China
- 2Key Laboratory of Digital Technology in Medical Diagnostics of Zhejiang Provinces, Hangzhou, Jiangsu Province, China
- 3Dian Diagnostics Group Co.,Ltd., Hangzhou, Zhejiang Province, China
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Background: Congenital heart defects (CHD), represent the leading cause of neonatal mortality among congenital abnormalities. Genetic factors, such as EVC2 gene mutations and other genetic alterations, constitute one of the major causes of CHD. Thus, determining the genetic etiology of fetal CHD is crucial for optimizing pregnancy management and informing future reproductive decisions.Case Presentation: Here, we describe a male fetus with complex CHD, who was diagnosed at 25 weeks of gestation, delivered at full term, and died prematurely within a month due to heart failure. Cardiac abnormalities included atrial septal defect developing from patent foramen ovale, mitral valve regurgitation, dilated ventricle (right) and atrium (left), aortic stenosis, and aortic arch dysplasia. Novel compound heterozygosity of the EVC2 gene, including nonsense (p.W828Ter) and two cis missense (p.E87G and p.S217C) mutations, was identified by prenatal trio-whole exome sequencing (trio-WES) of amniotic fluid and followed by validation using Sanger sequencing. This novel EVC2 genotype was supposed to potentially affect fetal cardiac development, considering the variable clinical heterogeneity of the EVC2 mutation-associated phenotype. It is the first identification of EVC2 p.E87G and p.S217C, and the isolated CHD without visible skeletal dysplasia is an important feature of our case.Our study expands the EVC2 genotypic and phenotypic spectra. We recommend that the EVC2 gene be included in preconception carrier screening and prenatal diagnosis for CHD.
Keywords: Congenital heart defect1, Fetus2, neonate3, EVC24, Ellis-van Creveld syndrome5, case report6
Received: 08 Dec 2023; Accepted: 18 Jun 2025.
Copyright: © 2025 Xu, Gao, Jin, Zhang, Yang, Zhang, Ye and Shen. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Shuangshuang Shen, Jinhua Maternity and Child Health Care Hospital, Jinhua, 321099, Zhejiang Province, China
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