Familial congenital laryngotracheal stenosis: A systematic review

Abstract

BackgroundCongenital laryngotracheal stenosis (CLS) is a rare cause of stridor among newborns. Evidence has shown that several family members can be affected by CLS. Knowledge of the pathophysiology of familial congenital laryngotracheal stenosis (FCLS) will enable more effective therapeutic strategies. ObjectiveTo determine the clinical course and outcome of familial congenital laryngotracheal stenosis (FCLS). MethodsA literature search was conducted over a period of one month (September 2023) by searching several databases to identify studies published from inception to 31st August 2023. ResultsOf 256 papers identified, five articles met the inclusion criteria. A total of 17 patients with slight female predominance (59 %) were identified. Familial congenital tracheal stenosis was reported in female twins (100 %). A variety of clinical presentations were listed. An endoscopic airway study was performed on all patients. 64.8 % of the included children were managed surgically. Genetic studies performed on 41 % of children could not locate genetic abnormalities. ConclusionConsanguinity, twin births, and female gender could be predisposing factors for FCLS, although the quality of evidence is low due to the rarity of the condition.