Tracheal agenesis with broncho-esophageal fistula in VACTERL / TACRD association

Abstract

Tracheal agenesis (TA) is an extremely rare malformation. We report here autopsy findings in a case of TA with bronchoesophageal fistula of Floyd type III. The other malformations present included laryngeal atresia, Right lung hypolobulation, ventricular septal defect in membranous portion, bilateral cystic renal dysplasia, spleninculus, Meckel's diverticulum, and imperforate anus. The constellations of malformations present in our case have overlapping features with Vertebral anomalies, Anal atresia, Cardiovascular anomalies, Tracheo-esophageal fistula, Esophageal atresia, Renal anomalies, Limb anomalies and Tracheal atresia or laryngo tracheal atresia, Cardiac anomalies, Renal anomalies, Duodenal atresia association described previously in the literature.

Esophageal Trachea, a Unique Foregut Malformation Requiring Multistage Surgical Reconstruction: Case Report

“…He described 96 types of foregut malformations, which were classified with 10 groups, including the large spectrum of esophageal atresia, with or without tracheo-esophageal fistula, as well as laryngo-tracheo-esophageal clefts, CBPFMs, and tracheal atresia (3). The malformation detected in our case was not recognizable among any of those described in the atlas and, to the best of our knowledge, has not been presented in further published case reports and small series (1,4,(14)(15)(16)(17)(18)(19)(20). Congenital absence of tracheal or bronchial rings, sometimes associated with esophageal atresia and trifurcated carina, has been described in very few cases, but none of them presented a segmental fusion between esophagus and distal trachea (21,22).…”

“…The lower respiratory tract, which includes the area between the larynx and lungs, embryologically originates from the foregut, firstly through the formation of the respiratory bud, and then by the action of the tracheo-esophageal septum (12)(13)(14). Consequently, the alteration of this embryological process can result in communicating malformations that might involve not only the esophagus and trachea, but also the pharynx, stomach, and biliary system, with the larynx, bronchi, and lungs (15)(16)(17)(18)(19).…”

Tracheal agenesis

“…TA has been associated with vertebral, anal, cardiovascular, tracheo-esophageal, renal and limb anomalies as in (VACTERL; or with cardiac, renal anomalies and duodenal atresia as in TACRD. [ 4 ] There is some evidence to suggest that inactivating mutations of BMP Type 1 receptors may have a role to play in its etiology. [ 5 ]…”

Neonatal esophageal trachealization and esophagocarinoplasty in the treatment of flow-limited Floyd II tracheal agenesis

“…VACTERL (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities) is a known associated sequence that has remained genetically ill-defined. [8][9][10] Multiple genomic deletions have been described in affected neonates. Domyan and colleagues 11 have described a mouse model of tracheal agenesis created by inactivating bone morphogenetic protein receptors (Bmp-1a/b) in the ventral ectoderm.…”