An adult patient with pulmonary atresia with ventricular septal defect and chromosome 17p13.3 microdeletion including YWHAE gene

Cardiology in the Young 2026

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Authors: Ella Jane McDonnell, Ioannis Kasouridis, Sahar Mansour
DOI: 10.1017/s1047951125110937
Cited by: 0
References: 10

Abstract

Abstract 17p13.3 microdeletions involving deletion of the gene YWHAE are a newly recognised cause of neurodevelopmental disorder. There are now emerging case reports of this genetic disorder associated with CHDs, and this case report outlines the first instance of this specific 17p13.3 microdeletion with pulmonary atresia with ventricular septal defect.

Fields of Study & Subjects

Genomic variations and chromosomal abnormalities Congenital Heart Disease Studies Congenital heart defects research

Publication details

Journal / source
Cardiology in the Young
Volume
36
Issue
2
Pages
430–432
Publication date
1 February 2026
Language
EN