Complex Fetal Anomalies: Kluth Type Xc2 Variant Tracheoesophageal Fistula, Srikanth Group III Bronchopulmonary Foregut Malformation, Mirror-Image Dextrocardia with L-Looped Ventricles, Anomalous Coronary Origin from the Pulmonary Artery, and Cardiac-

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.

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Journal
Pediatric and Developmental Pathology
Published
2025-12-08
DOI
https://doi.org/10.1177/10935266251395235
Primary Topic
Congenital Diaphragmatic Hernia Studies
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article
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article

Complex Fetal Anomalies: Kluth Type Xc2 Variant Tracheoesophageal Fistula, Srikanth Group III Bronchopulmonary Foregut Malformation, Mirror-Image Dextrocardia with L-Looped Ventricles, Anomalous Coronary Origin from the Pulmonary Artery, and Cardiac-

David Somerset, Elaine S. Chan, Wenfeng Yu
Pediatric and Developmental Pathology
Congenital Diaphragmatic Hernia Studies
article

Complex Fetal Anomalies: Kluth Type Xc2 Variant Tracheoesophageal Fistula, Srikanth Group III Bronchopulmonary Foregut Malformation, Mirror-Image Dextrocardia with L-Looped Ventricles, Anomalous Coronary Origin from the Pulmonary Artery, and Cardiac-

David Somerset, Elaine S. Chan, Wenfeng Yu
article en

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.

Pediatric and Developmental PathologyVol. 29(2)
University of Calgary (CA)
Openalex Percentile: Top 42%
Congenital Diaphragmatic Hernia Studies
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Complex Fetal Anomalies: Kluth Type Xc2 Variant Tracheoesophageal Fistula, Srikanth Group III Bronchopulmonary Foregut Malformation, Mirror-Image Dextrocardia with L-Looped Ventricles, Anomalous Coronary Origin from the Pulmonary Artery, and Cardiac- — David Somerset, Elaine S. Chan, et al. · Pediatric and Developmental Pathology (2025) | TGRS Research Map | TGRS