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Tracheal agenesis

MedGen UID:
266059
•Concept ID:
C1261567
•
Congenital Abnormality
Synonym: Congenital tracheal agenesis
SNOMED CT: Agenesis of trachea (1003555002); Congenital absence of trachea (3987009)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0018058
Orphanet: ORPHA3346

Definition

Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTracheal agenesis
Follow this link to review classifications for Tracheal agenesis in Orphanet.

Professional guidelines

PubMed

Clinical presentation and airway management of tracheal atresia: A systematic review.
Smith MM, Huang A, Labbé M, Lubov J, Nguyen LHP
Int J Pediatr Otorhinolaryngol 2017 Oct;101:57-64. Epub 2017 Jul 24 doi: 10.1016/j.ijporl.2017.07.028. PMID: 28964311

Recent clinical studies

Etiology

Impact of Tracheal Arborization and Lung Hypoplasia in Repair of Pulmonary Artery Sling in Combination With Long-Segment Tracheal Stenosis.
Rudrappa SC, Beeman A, Ramaswamy M, Khambadkone S, Derrick G, Kostolny M, Calder A, Muthialu N
World J Pediatr Congenit Heart Surg 2023 Mar;14(2):134-140. Epub 2023 Feb 14 doi: 10.1177/21501351221145172. PMID: 36788380
Tracheal reconstruction surgery for congenital tracheal stenosis.
Tanh NTV, Thach PN, Phong LS, Ngoc LTD, Nguyen PT, Van Anh Dung H, Mau TA, Nhan VT
Pediatr Surg Int 2023 Feb 14;39(1):123. doi: 10.1007/s00383-023-05418-w. PMID: 36787049
Slide Tracheoplasty: Complete Tracheal Rings and Beyond.
Richardson CM, Hart CK, Johnson KE, Gerber ME
Otolaryngol Clin North Am 2022 Dec;55(6):1253-1270. doi: 10.1016/j.otc.2022.07.014. PMID: 36371139
International Pediatric Otolaryngology Group (IPOG) consensus recommendations: Evaluation and management of congenital tracheal stenosis.
Sidell DR, Meister KD, de Alarcon A, Boudewyns A, Brigger M, Chun R, Fayoux P, Goudy S, Hart CK, Hewitt R, Hsu WC, Javia LR, Johnson RF, Messner AH, Moreddu E, Nicollas R, Prager JD, Rahbar R, Rickert S, Rossi ME, Russell J, Rutter M, Sandu K, Smith RJH, Soma M, Thierry B, Trozzi M, White DR, Balakrishnan K
Int J Pediatr Otorhinolaryngol 2022 Oct;161:111251. Epub 2022 Aug 17 doi: 10.1016/j.ijporl.2022.111251. PMID: 35988373
Pediatric airway surgery.
Maeda K
Pediatr Surg Int 2017 Apr;33(4):435-443. Epub 2017 Jan 28 doi: 10.1007/s00383-016-4050-7. PMID: 28132084

Diagnosis

Congenital airway anomalies.
Varela P, Schweiger C
Semin Pediatr Surg 2021 Jun;30(3):151055. Epub 2021 May 23 doi: 10.1016/j.sempedsurg.2021.151055. PMID: 34172206
Pediatric airway surgery.
Maeda K
Pediatr Surg Int 2017 Apr;33(4):435-443. Epub 2017 Jan 28 doi: 10.1007/s00383-016-4050-7. PMID: 28132084
Rare Upper Airway Anomalies.
Windsor A, Clemmens C, Jacobs IN
Paediatr Respir Rev 2016 Jan;17:24-8. Epub 2015 Jul 10 doi: 10.1016/j.prrv.2015.07.001. PMID: 26277452
Management of Congenital Tracheal Stenosis.
Hofferberth SC, Watters K, Rahbar R, Fynn-Thompson F
Pediatrics 2015 Sep;136(3):e660-9. doi: 10.1542/peds.2014-3931. PMID: 26304826
Tracheal agenesis.
Manschot HJ, van den Anker JN, Tibboel D
Anaesthesia 1994 Sep;49(9):788-90. doi: 10.1111/j.1365-2044.1994.tb04453.x. PMID: 7978136

Therapy

Recovery of cyanosis after esophageal intubation in a neonate with tracheal agenesis: a case report.
Çelik HT, Akın MŞ, Bozkaya D, Yalçın EŞ, Süslü AE, Haliloğlu M, Güçer KŞ, Yurdakök M
Turk J Pediatr 2022;64(4):775-780. doi: 10.24953/turkjped.2018.1637. PMID: 36082653
Surgical management strategy of slide tracheoplasty for infants with congenital tracheal stenosis.
Chen L, Zhu L, Wang H, Lu Z, Xu Z, Du X, Wang S
J Thorac Cardiovasc Surg 2022 Jun;163(6):2218-2228. Epub 2021 Nov 4 doi: 10.1016/j.jtcvs.2021.10.047. PMID: 34872757
Infectious complications after tracheoplasty for congenital tracheal stenosis: a retrospective comparative study.
Fujieda Y, Morita K, Otake S, Kasai M, Hatakeyama T
Pediatr Surg Int 2021 Dec;37(12):1737-1741. Epub 2021 Aug 27 doi: 10.1007/s00383-021-04996-x. PMID: 34453197
Bronchial Mismatch as a Predictor of Respiratory Failure After Congenital Tracheal Stenosis Repair.
Cetrano E, Trezzi M, Secinaro A, Di Chiara L, Trozzi M, Bottero S, Polito A, Carotti A
Ann Thorac Surg 2018 Apr;105(4):1264-1271. Epub 2018 Feb 15 doi: 10.1016/j.athoracsur.2017.10.046. PMID: 29397926
Julia's placebo effect.
Bachiocco V, Mondardini MC
Pain 2010 Sep;150(3):582-585. doi: 10.1016/j.pain.2010.05.023. PMID: 20705216

Prognosis

Tracheal agenesis in a new born: lessons learnt.
Naina P, John M, Kathar MA, Kumar M
BMJ Case Rep 2018 Jun 17;2018 doi: 10.1136/bcr-2017-224003. PMID: 29914900Free PMC Article
Tracheal agenesis: optimization of computed tomography diagnosis by airway ventilation.
Cristallo Lacalamita M, Fau S, Bornand A, Vidal I, Martino A, Eperon I, Toso S, Rougemont AL, Hanquinet S
Pediatr Radiol 2018 Mar;48(3):427-432. Epub 2017 Nov 17 doi: 10.1007/s00247-017-4024-5. PMID: 29147912
Clinical presentation and airway management of tracheal atresia: A systematic review.
Smith MM, Huang A, Labbé M, Lubov J, Nguyen LHP
Int J Pediatr Otorhinolaryngol 2017 Oct;101:57-64. Epub 2017 Jul 24 doi: 10.1016/j.ijporl.2017.07.028. PMID: 28964311
Pediatric airway surgery.
Maeda K
Pediatr Surg Int 2017 Apr;33(4):435-443. Epub 2017 Jan 28 doi: 10.1007/s00383-016-4050-7. PMID: 28132084
Tracheal agenesis, a frightening scenario.
Mohammed H, West K, Bewick J, Wickstead M
J Laryngol Otol 2016 Mar;130(3):314-7. Epub 2016 Jan 7 doi: 10.1017/S0022215115003515. PMID: 26740311

Clinical prediction guides

Long- term outcomes of congenital tracheal stenosis after slide tracheoplasty.
Nakatani T, Morita K, Yokoi A, Hatakeyama T
Pediatr Surg Int 2024 Mar 20;40(1):84. doi: 10.1007/s00383-024-05670-8. PMID: 38507085
Surgical management strategy of slide tracheoplasty for infants with congenital tracheal stenosis.
Chen L, Zhu L, Wang H, Lu Z, Xu Z, Du X, Wang S
J Thorac Cardiovasc Surg 2022 Jun;163(6):2218-2228. Epub 2021 Nov 4 doi: 10.1016/j.jtcvs.2021.10.047. PMID: 34872757
Risk Stratification of Slide Tracheoplasty for Pediatric Airway Stenosis.
Beeman A, Ramaswamy M, Chippington S, Wallis C, Hayden M, Hewitt R, Muthialu N
Ann Thorac Surg 2022 Apr;113(4):1299-1306. Epub 2021 Apr 20 doi: 10.1016/j.athoracsur.2021.04.004. PMID: 33864756
Infectious complications after tracheoplasty for congenital tracheal stenosis: a retrospective comparative study.
Fujieda Y, Morita K, Otake S, Kasai M, Hatakeyama T
Pediatr Surg Int 2021 Dec;37(12):1737-1741. Epub 2021 Aug 27 doi: 10.1007/s00383-021-04996-x. PMID: 34453197
Julia's placebo effect.
Bachiocco V, Mondardini MC
Pain 2010 Sep;150(3):582-585. doi: 10.1016/j.pain.2010.05.023. PMID: 20705216

Recent systematic reviews

Slide Tracheoplasty for Congenital Tracheal Stenosis Repair: A Systematic Review and Meta-Analysis.
Wu Y, Wang G, Dai J, Li H, Li Y, Wu C, Wei G
Laryngoscope 2022 Aug;132(8):1532-1541. Epub 2021 Jul 20 doi: 10.1002/lary.29771. PMID: 34287919
Tracheal anomalies associated with Down syndrome: A systematic review.
Fockens MM, Hölscher M, Limpens J, Dikkers FG
Pediatr Pulmonol 2021 May;56(5):814-822. Epub 2021 Jan 12 doi: 10.1002/ppul.25203. PMID: 33434377Free PMC Article
Clinical presentation and airway management of tracheal atresia: A systematic review.
Smith MM, Huang A, Labbé M, Lubov J, Nguyen LHP
Int J Pediatr Otorhinolaryngol 2017 Oct;101:57-64. Epub 2017 Jul 24 doi: 10.1016/j.ijporl.2017.07.028. PMID: 28964311
Congenital tracheal stenosis managed conservatively: systematic review of the literature.
Ywakim R, El-Hakim H
J Otolaryngol Head Neck Surg 2012 Aug;41(4):288-302. PMID: 22935181

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