Case Report: Newly discovered ELN gene mutation in congenital heart disease: case analysis and review

This novel exon 28 ELN frameshift expands the non-syndromic SVAS spectrum and illustrates a characteristic pattern of progressive aortic stenosis with improving PPAS, supporting ELN testing and targeted longitudinal surveillance in similar patients and families.

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Publication Details

Journal
Frontiers in Pediatrics
Published
2026-01-29
DOI
https://doi.org/10.3389/fped.2026.1671066
Primary Topic
Cardiomyopathy and Myosin Studies
Type
article
Field-Weighted Citation Impact
0.00
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article

Case Report: Newly discovered ELN gene mutation in congenital heart disease: case analysis and review

Jialin Qiu, Xia Xie, Guozhen Wang, peiwen Cheng et al.
Frontiers in Pediatrics
Cardiomyopathy and Myosin Studies
article

Case Report: Newly discovered ELN gene mutation in congenital heart disease: case analysis and review

Jialin Qiu, Xia Xie, Guozhen Wang, peiwen Cheng, Y F An
article en

Abstract

This novel exon 28 ELN frameshift expands the non-syndromic SVAS spectrum and illustrates a characteristic pattern of progressive aortic stenosis with improving PPAS, supporting ELN testing and targeted longitudinal surveillance in similar patients and families.

Frontiers in PediatricsVol. 14
Children's Hospital of Chongqing Medical University (CN), Chongqing Medical University (CN)
Openalex Percentile: Top 76%
Cardiomyopathy and Myosin Studies
DOIOpen Access PDFOpenAlex
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Case Report: Newly discovered ELN gene mutation in congenital heart disease: case analysis and review — Jialin Qiu, Xia Xie, et al. · Frontiers in Pediatrics (2026) | TGRS Research Map | TGRS