Oesophageal atresia

Abstract

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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Fig. 1: Oesophageal atresia.
Fig. 2: Foregut separation.
Fig. 3: Genes and transcription factors involved in foregut separation.
Fig. 4: Factors contributing to feeding difficulties in EA.
Fig. 5: Diagnosis of EA.
Fig. 6: Contraction patterns on HRM in patients born with EA.

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Acknowledgements

T.I.O. holds an Australian National Health and Medical Research Council Senior Research Fellowship. The other authors report no external funding for this manuscript.

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Nature Reviews Disease Primers thanks D. Van der Zee, and other anonymous reviewer(s), for their contribution to the peer review of this work.

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Introduction (M.M.J.S. and M.P.v.W.); Epidemiology (M.v.L. and M.P.v.W.); Mechanisms/pathophysiology (M.v.L., M.M.J.S and M.A.B.); Diagnosis, screening and prevention (F.G., M.M.J.S., S.W.J.T.-L. and T.I.O.); Management (L.D.’O., M.v.L., F.G., S.W.J.T.-L. and U.K.); Quality of life (M.v.L. and M.P.v.W.); Outlook (all authors); Overview of the Primer (M.A.B., M.P.v.W., M.v.L. and M.M.J.S.). M.v.L. and M.M.J.S. contributed equally to the manuscript.

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Correspondence to Marc A. Benninga.

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van Lennep, M., Singendonk, M.M.J., Dall’Oglio, L. et al. Oesophageal atresia. Nat Rev Dis Primers 5, 26 (2019). https://doi.org/10.1038/s41572-019-0077-0

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