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Oesophageal atresia

Nature Reviews Disease Primers volume 5, Article number: 26 (2019) Cite this article

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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.

Reviewer information

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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Authors and Affiliations

  1. Emma Children’s Hospital, Amsterdam UMC, University of Amsterdam, Pediatric Gastroenterology and Nutrition, Amsterdam, The Netherlands

    Marinde van Lennep, Maartje M. J. Singendonk, Marc A. Benninga & Michiel P. van Wijk

  2. Digestive Endoscopy and Surgery Unit, Bambino Gesu Children’s Hospital-IRCCS, Rome, Italy

    Luigi Dall’Oglio

  3. CHU Lille, University Lille, National Reference Center for Congenital Malformation of the Esophagus, Department of Pediatric Gastroenterology Hepatology and Nutrition, Lille, France

    Fréderic Gottrand

  4. Department of Paediatric Gastroenterology, Sydney Children’s Hospital, Sydney, New South Wales, Australia

    Usha Krishnan

  5. Discipline of Paediatrics, School of Women’s and Children’s Health, University of New South Wales, Sydney, New South Wales, Australia

    Usha Krishnan

  6. Emma Children’s Hospital, Amsterdam UMC, University of Amsterdam, Pediatric Pulmonology, Amsterdam, The Netherlands

    Suzanne W. J. Terheggen-Lagro

  7. College of Medicine and Public Health, Flinders University, Adelaide, South Australia, Australia

    Taher I. Omari

  8. Center for Neuroscience, Flinders University, Adelaide, South Australia, Australia

    Taher I. Omari

  9. Emma Children’s Hospital, Amsterdam UMC, Vrije Universiteit, Pediatric Gastroenterology, Amsterdam, The Netherlands

    Michiel P. van Wijk

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  1. Marinde van Lennep
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  8. Marc A. Benninga
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  9. Michiel P. van Wijk
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Contributions

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.

Corresponding author

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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