March 3, 2026Open Access

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

Key Points

Progressive aortic stenosis was observed, highlighting the importance of genetic factors.
The identified ELN gene mutation expands the non-syndromic supravalvular aortic stenosis spectrum.

Structured PICO

Population

Patients with congenital heart disease, specifically non-syndromic supravalvular aortic stenosis (SVAS) and peripheral pulmonary artery stenosis (PPAS)

Intervention

ELN gene testing

Outcome

Identification of genetic mutation and clinical disease pattern

The discovery of a novel ELN frameshift mutation supports the use of ELN testing and targeted longitudinal surveillance in patients with non-syndromic SVAS.

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.

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Discussion

Authors

peiwen Cheng

Guozhen Wang

Jialin Qiu

Journals

Frontiers in Pediatrics

Actions

Institutions

Chongqing Medical University

Children's Hospital of Chongqing Medical University

References and Citations

Connected Papers

Building similarity graph...

Analyzing shared references across papers

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

Key Points

Structured PICO

Abstract

Citation Network

Connected Papers

Discussion

Authors

Journals

Actions

Institutions

References and Citations

Citation Network

Connected Papers

Discussion

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