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Article Dans Une Revue (Article De Synthèse) Nature reviews Disease primers Année : 2019

Oesophageal atresia

Marinde van Lennep
  • Fonction : Auteur
Maartje M. J. Singendonk
  • Fonction : Auteur
Luigi Dall''Oglio
  • Fonction : Auteur
Usha Krishnan
  • Fonction : Auteur
Suzanne W. J. Terheggen-Lagro
  • Fonction : Auteur
Taher I. Omari
  • Fonction : Auteur
Marc A. Benninga
  • Fonction : Auteur
Michiel P. van Wijk
  • Fonction : Auteur


Oesophageal atresia (EA) is a congenital abnormality of the oesophagus that is caused by incomplete embryonic compartmentalization of the foregut. EA commonly occurs with a tracheo-oesophageal fistula (TEF). Associated birth defects or anomalies, such as VACTERL association, trisomy 18 or 21 and CHARGE syndrome, occur in the majority of patients born with EA. Although several studies have revealed signalling pathways and genes potentially involved in the development of EA, our understanding of the pathophysiology of EA lags behind the improvements in surgical and clinical care of patients born with this anomaly. EA is treated surgically to restore the oesophageal interruption and, if present, ligate and divide the TEF. Survival is now ~90% in those born with EA with severe associated anomalies and even higher in those born with EA alone. Despite these achievements, long-term gastrointestinal and respiratory complications and comorbidities in patients born with EA are common and lead to decreased quality of life. Oesophageal motility disorders are probably ubiquitous in patients after undergoing EA repair and often underlie these complications and comorbidities. The implementation of several new diagnostic and screening tools in clinical care, including high-resolution impedance manometry, pH-multichannel intraluminal impedance testing and disease-specific quality of life questionnaires now provide better insight into these problems and may contribute to better long-term outcomes in the future.
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Dates et versions

hal-04440779 , version 1 (06-02-2024)



Marinde van Lennep, Maartje M. J. Singendonk, Luigi Dall''Oglio, Fréderic Gottrand, Usha Krishnan, et al.. Oesophageal atresia. Nature reviews Disease primers, 2019, Nature reviews Disease primers, 5, pp.26. ⟨10.1038/s41572-019-0077-0⟩. ⟨hal-04440779⟩


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