Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study.

Romy van de Putte , ALM van Rooij , CLM Marcelis, M Guo, HG Brunner, Marie-Claude Addor, Clara Cavero-Carbonell , Carlos Dias, ES Draper, L Etxebarriarteun, Miriam Gatt, Martin Haeusler, Babak Khoshnood, Kari Klungsoyr, JJ Kurinczuk, Monica Lanzoni , Anna Latos-Bielenska , K Luyt, Mary O’Mahony, N Miller & 19 others Carmel Mullaney, Vera Nelen, Amanda Neville, I Perthus, Anna Pierini, Hanitra Randrianaivo , Judith Rankin, Anke Rissmann, Florence Rouget, B Schaub, David Tucker, Diana Wellesley, Awi Wiesel, Natalya Zymak-Zakutnia , Maria Loane, Ingeborg Barisic, Hermien de Walle , N Roeleveld, Jorieke Bergman

Research output: Contribution to journalArticle

Abstract

BACKGROUND: The VACTERL 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 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.
LanguageEnglish
JournalPediatric Research
Early online date9 Sep 2019
DOIs
Publication statusE-pub ahead of print - 9 Sep 2019

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Extremities
Esophageal Fistula
Kidney
Esophageal Atresia
Population
Parturition
Databases
Research
Anorectal Malformations
VACTERL association

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van de Putte , R., van Rooij , ALM., Marcelis, CLM., Guo, M., Brunner, HG., Addor, M-C., ... Bergman, J. (2019). Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study. Pediatric Research. https://doi.org/10.1038/s41390-019-0561-y
van de Putte , Romy ; van Rooij , ALM ; Marcelis, CLM ; Guo, M ; Brunner, HG ; Addor, Marie-Claude ; Cavero-Carbonell , Clara ; Dias, Carlos ; Draper, ES ; Etxebarriarteun, L ; Gatt, Miriam ; Haeusler, Martin ; Khoshnood, Babak ; Klungsoyr, Kari ; Kurinczuk, JJ ; Lanzoni , Monica ; Latos-Bielenska , Anna ; Luyt, K ; O’Mahony, Mary ; Miller, N ; Mullaney, Carmel ; Nelen, Vera ; Neville, Amanda ; Perthus, I ; Pierini, Anna ; Randrianaivo , Hanitra ; Rankin, Judith ; Rissmann, Anke ; Rouget, Florence ; Schaub, B ; Tucker, David ; Wellesley, Diana ; Wiesel, Awi ; Zymak-Zakutnia , Natalya ; Loane, Maria ; Barisic, Ingeborg ; de Walle , Hermien ; Roeleveld, N ; Bergman, Jorieke. / Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study. In: Pediatric Research. 2019.
@article{dd1a0f1290e142ccaf3e96bb774bce33,
title = "Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study.",
abstract = "BACKGROUND: The VACTERL 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 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.",
author = "{van de Putte}, Romy and {van Rooij}, ALM and CLM Marcelis and M Guo and HG Brunner and Marie-Claude Addor and Clara Cavero-Carbonell and Carlos Dias and ES Draper and L Etxebarriarteun and Miriam Gatt and Martin Haeusler and Babak Khoshnood and Kari Klungsoyr and JJ Kurinczuk and Monica Lanzoni and Anna Latos-Bielenska and K Luyt and Mary O’Mahony and N Miller and Carmel Mullaney and Vera Nelen and Amanda Neville and I Perthus and Anna Pierini and Hanitra Randrianaivo and Judith Rankin and Anke Rissmann and Florence Rouget and B Schaub and David Tucker and Diana Wellesley and Awi Wiesel and Natalya Zymak-Zakutnia and Maria Loane and Ingeborg Barisic and {de Walle}, Hermien and N Roeleveld and Jorieke Bergman",
year = "2019",
month = "9",
day = "9",
doi = "10.1038/s41390-019-0561-y",
language = "English",
journal = "Pediatric Research",
issn = "0031-3998",

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van de Putte , R, van Rooij , ALM, Marcelis, CLM, Guo, M, Brunner, HG, Addor, M-C, Cavero-Carbonell , C, Dias, C, Draper, ES, Etxebarriarteun, L, Gatt, M, Haeusler, M, Khoshnood, B, Klungsoyr, K, Kurinczuk, JJ, Lanzoni , M, Latos-Bielenska , A, Luyt, K, O’Mahony, M, Miller, N, Mullaney, C, Nelen, V, Neville, A, Perthus, I, Pierini, A, Randrianaivo , H, Rankin, J, Rissmann, A, Rouget, F, Schaub, B, Tucker, D, Wellesley, D, Wiesel, A, Zymak-Zakutnia , N, Loane, M, Barisic, I, de Walle , H, Roeleveld, N & Bergman, J 2019, 'Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study.', Pediatric Research. https://doi.org/10.1038/s41390-019-0561-y

Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study. / van de Putte , Romy ; van Rooij , ALM; Marcelis, CLM; Guo, M; Brunner, HG; Addor, Marie-Claude; Cavero-Carbonell , Clara; Dias, Carlos; Draper, ES; Etxebarriarteun, L; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; Kurinczuk, JJ; Lanzoni , Monica; Latos-Bielenska , Anna; Luyt, K; O’Mahony, Mary; Miller, N; Mullaney, Carmel; Nelen, Vera; Neville, Amanda; Perthus, I; Pierini, Anna; Randrianaivo , Hanitra; Rankin, Judith; Rissmann, Anke; Rouget, Florence; Schaub, B; Tucker, David; Wellesley, Diana; Wiesel, Awi; Zymak-Zakutnia , Natalya; Loane, Maria; Barisic, Ingeborg; de Walle , Hermien; Roeleveld, N; Bergman, Jorieke.

In: Pediatric Research, 09.09.2019.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study.

AU - van de Putte , Romy

AU - van Rooij , ALM

AU - Marcelis, CLM

AU - Guo, M

AU - Brunner, HG

AU - Addor, Marie-Claude

AU - Cavero-Carbonell , Clara

AU - Dias, Carlos

AU - Draper, ES

AU - Etxebarriarteun, L

AU - Gatt, Miriam

AU - Haeusler, Martin

AU - Khoshnood, Babak

AU - Klungsoyr, Kari

AU - Kurinczuk, JJ

AU - Lanzoni , Monica

AU - Latos-Bielenska , Anna

AU - Luyt, K

AU - O’Mahony, Mary

AU - Miller, N

AU - Mullaney, Carmel

AU - Nelen, Vera

AU - Neville, Amanda

AU - Perthus, I

AU - Pierini, Anna

AU - Randrianaivo , Hanitra

AU - Rankin, Judith

AU - Rissmann, Anke

AU - Rouget, Florence

AU - Schaub, B

AU - Tucker, David

AU - Wellesley, Diana

AU - Wiesel, Awi

AU - Zymak-Zakutnia , Natalya

AU - Loane, Maria

AU - Barisic, Ingeborg

AU - de Walle , Hermien

AU - Roeleveld, N

AU - Bergman, Jorieke

PY - 2019/9/9

Y1 - 2019/9/9

N2 - BACKGROUND: The VACTERL 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 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.

AB - BACKGROUND: The VACTERL 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 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.

U2 - 10.1038/s41390-019-0561-y

DO - 10.1038/s41390-019-0561-y

M3 - Article

JO - Pediatric Research

T2 - Pediatric Research

JF - Pediatric Research

SN - 0031-3998

ER -