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CC BY 4.0 · Eur J Pediatr Surg 2024; 34(04): 325-332
DOI: 10.1055/a-2081-1288
Original Article

Early-Onset Pectus Excavatum Is More Likely to Be Part of a Genetic Variation

Ryan Billar
1   Department of Pediatric Surgery, Erasmus University Medical Center, Sophia Children's Hospital, Rotterdam, the Netherlands
,
Stijn Heyman
2   Department of Pediatric Surgery, ZNA, Antwerp Hospital Network, Queen Paola Children's Hospital, Antwerp, Belgium
,
Sarina Kant
3   Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands
,
René Wijnen
1   Department of Pediatric Surgery, Erasmus University Medical Center, Sophia Children's Hospital, Rotterdam, the Netherlands
,
Frank Sleutels
3   Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands
,
Serwet Demirdas   *
3   Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands
,
J. Marco Schnater   *
1   Department of Pediatric Surgery, Erasmus University Medical Center, Sophia Children's Hospital, Rotterdam, the Netherlands
› Author Affiliations
Funding None.
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Abstract

Background Potential underlying genetic variations of pectus excavatum (PE) are quite rare. Only one-fifth of PE cases are identified in the first decade of life and thus are of congenital origin. The objective of this study is to test if early-onset PE is more likely to be part of genetic variations than PE that becomes apparent during puberty or adolescence.

Materials and Methods Children younger than 11 years who presented with PE to the outpatient clinic of the Department of Pediatric Surgery at our center between 2014 and 2020 were screened by two clinical geneticists separately. Molecular analysis was performed based on the differential diagnosis. Data of all young PE patients who already had been referred for genetic counseling were analyzed retrospectively.

Results Pathogenic genetic variations were found in 8 of the 18 participants (44%): 3 syndromic disorders (Catel–Manzke syndrome and two Noonan syndromes), 3 chromosomal disorders (16p13.11 microduplication syndrome, 22q11.21 microduplication syndrome, and genetic gain at 1q44), 1 connective tissue disease (Loeys–Dietz syndrome), and 1 neuromuscular disorder (pathogenic variation in BICD2 gene).

Conclusion Early-onset PE is more likely to be part of genetic variations than PE that becomes apparent during puberty or adolescence. Referral for genetic counseling should therefore be considered.

Trial Registration: NCT05443113

Keywords

surgery - chest anomaly - genetics - pediatrics

Data Sharing Statement

Deidentified individual participant data will not be made available.


Author Contributions

R. B. conceived the study idea, coordinated the cohort study, wrote the first draft of the manuscript, interpreted the data, critically revised the manuscript, and made all figures and the final drafts of all tables. J. M. S. conceived the study idea, coordinated the cohort study, interpreted the data, and critically revised the manuscript. S. H., S. K., and S. D. coordinated the cohort study, interpreted the data, and critically revised the manuscript. F. S. interpreted the data and critically revised the manuscript. R. W. critically revised the manuscript. All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.


* These authors contributed equally.


Supplementary Material



Publication History

Received: 04 April 2023

Accepted: 20 April 2023

Accepted Manuscript online:
26 April 2023

Article published online:
19 May 2023

© 2023. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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