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

ABSTRACT:

Introduction

Supravalvular aortic stenosis (SVAS) is a rare left ventricular outflow tract obstruction, most commonly caused by pathogenic variants in ELN. Truncating variants in exons 1-29 typically produce non-syndromic SVAS through elastin haploinsufficiency, whereas C-terminal variants are linked to autosomal dominant cutis laxa. However, clinically and mechanistically well-characterized variants in the distal part of this "stenotic zone," such as exon 28, remain uncommon.

Methods

We conducted a retrospective family-based case report with standardized clinical evaluation, serial echocardiography, and trio whole-exome sequencing with Sanger confirmation and conservation analysis.

Results

A female infant presented at 1 month with severe sinotubular junction narrowin

SUBMITTER: Cheng P 

PROVIDER: S-EPMC12894336 | biostudies-literature | 2026

REPOSITORIES: biostudies-literature