Mechanical compression causes lung hypoplasia in congenital diaphragmatic hernia with GATA4 genetic variants

American Journal of Physiology-Lung Cellular and Molecular Physiology 2026 Open access

Read full text
Authors: Betty Pham, Zhuowei Li, Gidsela Luna, Nicole Talaba, Na Zhang, Giangela Stokes, Mark D. Wienhold, Jinhao Xu, Yujuan Su, Rebecca Hernan, Wendy K. Chung, Xin Sun
+1 more David J. McCulley
DOI: 10.1152/ajplung.00203.2025
Cited by: 2
References: 89

Abstract

Congenital diaphragmatic hernia (CDH) is a common and severe malformation associated with abnormal lung and pulmonary vascular development. This study investigates GATA4 haploinsufficiency, a common CDH-associated variant linked to higher morbidity and mortality. We establish mechanical compression as the mechanism leading to abnormal lung and pulmonary vascular development, which differs from other CDH-associated variants. Findings support using patient genotype to identify those most likely to benefit from fetal procedures that improve lung growth and survival.

Fields of Study & Subjects

Congenital Diaphragmatic Hernia Studies Congenital heart defects research Tracheal and airway disorders

Publication details

Journal / source
American Journal of Physiology-Lung Cellular and Molecular Physiology
Publisher
American Physiological Society
Volume
330
Issue
4
Pages
L457–L475
Publication date
5 March 2026
Language
EN