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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