Tracheal agenesis revisited: analysis of associated anomalies

Abstract

We describe five new cases of tracheal agenesis and report on epidemiological and numerical analyses of nearly 100 such cases with multiple congenital anomalies. Malformations seen with tracheal agenesis form patterns which overlap with, but are distinct from, VACTERL association. They have a high frequency of other lower respiratory tract anomalies; e.g., laryngeal atresia and lung lobation defects, and complex heart anomalies, but fewer anal and vertebral malformations. Cluster analysis of the malformations in 86 patients identified four consistent groups. Anomalies in the first group were primarily restricted to the trachea, larynx, and cardiovascular system. In the second group, the patients had more severe cardiac defects, and lung lobation anomalies, while in the third they had a caudal component in addition to thoracic abnormalities, with anal and renal anomalies being common. Each of these groups showed a male excess and may represent increasingly severe perturbations in development fields encompassing the developing respiratory tract. Although the nature of the causative insult is unknown and probably heterogenous, one underlying pathogenetic mechanism may be abnormal epithelial-mesenchymal interactions. Patients in the fourth group also had multisystem involvement with a high incidence of aberrant vessels, complex cardiac malformations, lung lobation defects, and anomalies of other foregut derivatives. The sex ratio in this group was normal and such cases could represent a disturbance in the primary development field during blastogenesis with secondary vascular disruptions. Complete tracheal agenesis is a lethal anomaly. However, segmental forms may be correctable and, in this group of infants, the nature of associated anomalies may well determine long-term prognosis.

Neonatal airway: challenging endotracheal intubation in infants with tracheal malformations at birth

“…Segmental stenosis is seen in case 1. TA stems from the abortion of the lung bud outgrowth, and delayed formation of the bronchi and lungs 4. There are three morphologically distinct types of TA.…”

A case of failed intubation

“…4 5 These include other anomalies of the respiratory tract, particularly of the larynx and lungs, complex cardiac malformations, genitourinary as well as gastrointestinal tract anomalies. The link between tracheal agenesis and the VATER/VACTERL association remains unresolved 1…”

“…At birth, the diagnosis is suggested by (1) absence of cry; (2) respiratory distress and cyanosis; (3) failure to negotiate endotracheal tube beyond the vocal cords in the presence of normal looking laryngeal anatomy; and (4) partially effective ventilation with bag and mask or through an oesophageal tube 12 4 An additional clinical sign, which has been inadequately stressed in the literature,9 but should be useful in confirming the clinical suspicion of tracheal agenesis, is the failure to palpate the trachea in the suprasternal space, as was observed in our case. This sign may be falsely present in conditions of extreme deviation of the trachea to one side secondary to conditions like pneumothorax, congenital diaphragmatic hernia, pleural effusion, or intrathoracic mass lesions.…”

Trachea

“…Up to 94% of patients with tracheal agenesis reportedly have other congenital anomalies (Evans et al 1999;Van Veenendaal et al 2000;Felix et al 2006). Up to 94% of patients with tracheal agenesis reportedly have other congenital anomalies (Evans et al 1999;Van Veenendaal et al 2000;Felix et al 2006).…”

“…Up to 94% of patients with tracheal agenesis reportedly have other congenital anomalies (Evans et al 1999;Van Veenendaal et al 2000;Felix et al 2006). The respiratory tract distal to the trachea (47-50%), the gastrointestinal tract (47-50%), the genitourinary tract (35-49%), the musculoskeletal system (19-38%), and the nervous system (7%) have also been reported to be associated with tracheoesophageal fistulas (Evans et al 1999;Van Veenendaal et al 2000;Felix et al 2006). The respiratory tract distal to the trachea (47-50%), the gastrointestinal tract (47-50%), the genitourinary tract (35-49%), the musculoskeletal system (19-38%), and the nervous system (7%) have also been reported to be associated with tracheoesophageal fistulas (Evans et al 1999;Van Veenendaal et al 2000;Felix et al 2006).…”