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Journal Articles Pediatric Research Year : 2020

Spectrum of Congenital Anomalies Among VACTERL Cases: A EUROCAT Population-Based Study

Marie-Claude Addor
  • Function : Author
Clara Cavero-Carbonell
  • Function : Author
Carlos M. Dias
  • Function : Author
Elizabeth S. Draper
  • Function : Author
Larraitz Etxebarriarteun
  • Function : Author
Miriam Gatt
  • Function : Author
Martin Haeusler
  • Function : Author
Kari Klungsoyr
  • Function : Author
Jenny J. Kurinczuk
  • Function : Author
Monica Lanzoni
  • Function : Author
Anna Latos-Bielenska
  • Function : Author
Karen Luyt
  • Function : Author
Mary T. O’mahony
  • Function : Author
Nicola Miller
  • Function : Author
Carmel Mullaney
  • Function : Author
Vera Nelen
  • Function : Author
Amanda J. Neville
  • Function : Author
Isabelle Perthus
Anna Pierini
  • Function : Author
Judith Rankin
  • Function : Author
Anke Rissmann
  • Function : Author
David Tucker
  • Function : Author
Diana Wellesley
  • Function : Author
Awi Wiesel
  • Function : Author
Natalya Zymak-Zakutnia
  • Function : Author
Maria Loane
  • Function : Author
Ingeborg Barisic
  • Function : Author

Abstract

Background: The VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association is the non-random occurrence of at least three of these congenital anomalies: vertebral, anal, cardiac, tracheo-esophageal, renal, and limb anomalies. Diagnosing VACTERL patients is difficult, as many disorders have multiple features in common with VACTERL. The aims of this study were to clearly outline component features, describe the phenotypic spectrum among the largest group of VACTERL patients thus far reported, and to identify phenotypically similar subtypes.Methods: A case-only study was performed assessing data on 501 cases recorded with VACTERL in the JRC-EUROCAT (Joint Research Centre-European Surveillance of Congenital Anomalies) central database (birth years: 1980-2015). We differentiated between major and minor VACTERL features and anomalies outside the VACTERL spectrum to create a clear definition of VACTERL.Results: In total, 397 cases (79%) fulfilled our VACTERL diagnostic criteria. The most commonly observed major VACTERL features were anorectal malformations and esophageal atresia/tracheo-esophageal fistula (both occurring in 62% of VACTERL cases), followed by cardiac (57%), renal (51%), vertebral (33%), and limb anomalies (25%), in every possible combination. Three VACTERL subtypes were defined: STRICT-VACTERL, VACTERL-LIKE, and VACTERL-PLUS, based on severity and presence of additional congenital anomalies.Conclusion: The clearly defined VACTERL component features and the VACTERL subtypes introduced will improve both clinical practice and etiologic research.

Dates and versions

hal-02565227 , version 1 (06-05-2020)

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Romy van De Putte, Iris A. L. M. Van Rooij, Carlo L. M. Marcelis, Michel Guo, Han G. Brunner, et al.. Spectrum of Congenital Anomalies Among VACTERL Cases: A EUROCAT Population-Based Study. Pediatric Research, 2020, 87 (3), pp.541-549. ⟨10.1038/s41390-019-0561-y⟩. ⟨hal-02565227⟩
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