Tracheal anomalies associated with Down syndrome: A systematic review

Abstract

Introduction Airway anomalies are accountable for a substantial part of morbidity and mortality in children with Down syndrome (DS). Although tracheal anomalies occur more often in DS children, a structured overview on the topic is lacking. We systematically reviewed the characteristics of tracheal anomalies in DS children. Methods A MEDLINE and EMBASE search for DS and tracheal anomalies was performed. Tracheal anomalies included tracheal stenosis, complete tracheal ring deformity (CTRD), tracheal bronchus, tracheomalacia, tracheal web, tracheal agenesis or atresia, laryngotracheoesophageal cleft type 3 or 4, trachea sleeve, and absent tracheal rings. Results Fifty‐nine articles were included. The trachea of DS children is significantly smaller than non‐DS children. Tracheomalacia and tracheal bronchus are seen significantly more often in DS children. Furthermore, tracheal stenosis, CTRD, and tracheal compression by vascular structures are seen regularly in children with DS. These findings are reflected by the significantly higher frequency of tracheostomy and tracheoplasty performed in DS children. Conclusion In children with DS, tracheal anomalies occur more frequently and tracheal surgery is performed more frequently than in non‐DS children. When complaints indicative of tracheal airway obstruction like biphasic stridor, dyspnea, or wheezing are present in children with DS, diagnostic rigid laryngotracheobronchoscopy with special attention to the trachea is indicated. Furthermore, imaging studies (computed tomography, magnetic resonance imaging, and ultrasound) play an important role in the workup of DS children with airway symptoms. Management depends on the type, number, and extent of tracheal anomalies. Surgical treatment seems to be the mainstay in severe cases.

Down Syndrome for the Otolaryngologist

“…The incidence of multilevel airway anomalies and need for tracheostomy or tracheoplasty are higher in the population with Down syndrome vs the general population . The reported prevalence of tracheomalacia 4.4% to 7.1%.…”

“…The reported prevalence of tracheomalacia 4.4% to 7.1%. In symptomatic patients with Down syndrome undergoing an endoscopic procedure, rates of tracheomalacia may be as high as 32% to 46% . Mild to moderate tracheomalacia may be managed conservatively, but in severe cases defined by hospitalizations for recurrent respiratory infections and need for PAP or intubation, tracheobronchopexy, aortopexy, tracheal stenting, and/or tracheotomy procedure may be necessary …”

Pediatric pulmonology 2021 year in review: Rare and diffuse lung disease

“…Patients with trisomy 21 frequently have airway anomalies, representing 11% of patients in both the Seidl et al 71 and Poore et al 72 series. Fockens et al 74 performed a systematic review of 59 other articles on airway anomalies in children with trisomy 21. Children with trisomy 21 had smaller tracheas as well as higher rates of tracheomalacia and tracheal bronchus than the general population.…”

“…Patients with trisomy 21 frequently have airway anomalies, representing 11% of patients in both the Seidl et al 71 and Poore et al 72 series. Fockens et al 74 performed a systematic review of 59 other articles on airway anomalies in children with trisomy 21.…”

Obstructive Sleep Disorders in Down Syndrome’s Children with and without Lower Airway Anomalies

“…Factors contributing to OSA specifically in DS are craniofacial abnormalities (midfacial and mandibular hypoplasia, a narrow nasopharynx, relative macroglossia and adenotonsillar hypertrophy), hypotonia, and a tendency to obesity [1]. Airway anomalies such as laryngo-and tracheomalacia are also more common in children with DS compared to controls: Retrospective studies show the presence of one or multiple airway anomalies in over 70% of patients with DS who underwent endoscopic evaluation, which is significantly higher than in control populations [5][6][7]. Few data are available on the impact of these lower airway anomalies on OSA severity and treatment outcome in children with DS (where so many different factors contribute to the development of OSA); however, it seems plausible that these children present with more severe OSA, lower saturation, and/or more treatment failure [8].…”