Pediatr Dev Pathol. 2025 Dec 8:10935266251395235. doi: 10.1177/10935266251395235. Online ahead of print.
ABSTRACT
We report a fetus at 20 + 5 weeks’ gestation with an exceptionally rare constellation of congenital anomalies. Prenatal imaging revealed left congenital diaphragmatic hernia, rightward cardiac displacement, possible tracheoesophageal fistula (TEF), transposition of the great vessels, and a large ventricular septal defect. Autopsy confirmed complete absence of tracheoesophageal separation from the larynx to the carina, consistent with Kluth type Xc2, incorporating extralobar pulmonary sequestration with esophageal communication. The findings met criteria for a communicating bronchopulmonary foregut malformation (CBPFM), Srikanth Group III. Additional anomalies included bilateral pulmonary hypoplasia, bilateral unilobar lungs with eparterial bronchi, mirror-image dextrocardia, L-looped ventricles with concordant atrioventricular and ventriculoarterial alignments, right-sided aortic arch, bilateral superior vena cava, cardiac-type total anomalous pulmonary venous connection with drainage into the morphologic right atrium, and anomalous coronary origin from the pulmonary artery. Cytogenetic studies and whole-exome sequencing were normal. To our knowledge, this is the first report of Kluth type Xc2 TEF with Srikanth Group III CBPFM since Stolte’s original description in 1952, and the first to combine this unique constellation. This case broadens the recognized spectrum of foregut and cardiopulmonary maldevelopment and underscores the importance of comprehensive evaluation in fetuses with multiple anomalies.
PMID:41355708 | DOI:10.1177/10935266251395235
