Young Pectus Excavatum Patients and Genetic Defects

Study Overview
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Brief Summary
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In most pectus excavatum (PE) patients an underlying genetic defect is not found with molecular analysis, as a direct genetic link with PE has yet to be found and because potential underlying genetic disorders are quite rare. Only one-fifth of all PE cases are identified in the first decade of life and thus of congenital origin making younger PE patients a unique patient group. Therefore, the research question is; is early-onset pectus excavatum (PE) more likely to be part of a genetic defect than PE which became apparent during puberty or adolescence?

Detailed Description
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Importance: In most pectus excavatum (PE) patients an underlying genetic defect is not found with molecular analysis, as a direct genetic link with PE has yet to be found and because potential underlying genetic disorders are quite rare. Only one-fifth of all PE cases are identified in the first decade of life and thus of congenital origin making younger PE patients a unique patient group. Objective: the investigators hypothesize that early-onset PE is more likely to be part of a genetic defect than PE which became apparent during puberty or adolescence. Design: Cohort study Setting: Single center Participants: All pediatric PE patients aged younger than 11 years upon first visit of the outpatient clinic of the department of pediatric surgery at the Sophia Children's Hospital - Erasmus Medical Center between 2014 and 2020 were identified and informed consent was obtained for inclusion. Two clinical geneticists performed the anamnesis and physical examination. Molecular analysis was performed based on the differential diagnosis. All young PE patients which have been referred for genetic counseling already, were analyzed retrospectively. Main Outcome: incidence of genetic defects

Official Title
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Early Onset Pectus Excavatum is More Likely to be Part of a Genetic Defect

Conditions
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Genetic Disease, Pectus Excavatum, Children, Adult

Intervention / Treatment
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* Diagnostic Test: Genetic analysis


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patients with pectus excavatum aged younger than 11 years upon first visit of our outpatient clinic Exclusion Criteria: None

Ages Eligible for Study
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Minimum Age: 0 Years
Maximum Age: 11 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Children (<11 years) with pectus excavatum<br>All pediatric PE patients aged younger than 11 years upon first visit of our outpatient clinic | Diagnostic Test: Genetic analysis<br>* Genetic analysis by geneticists<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Incidence of genetic variations | Incidence of genetic variations in children (<11 years) with pectus excavatum | Baseline | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Evaluation checklist referral of a patient with pectus excavatum for genetic counseling | Evaluation and validation of checklist referral of a patient with pectus excavatum for genetic counseling | Through study completion, an average of 1 year | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Pectus excavatum, Children, Gene, Syndrome