Young Pectus Excavatum Patients and Genetic Defects
Study Details
Study Description
Brief Summary
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?
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
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Detailed Description
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
Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Children (<11 years) with pectus excavatum All pediatric PE patients aged younger than 11 years upon first visit of our outpatient clinic |
Diagnostic Test: Genetic analysis
Genetic analysis by geneticists
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Outcome Measures
Primary Outcome Measures
- Incidence of genetic variations [Baseline]
Incidence of genetic variations in children (<11 years) with pectus excavatum
Secondary Outcome Measures
- Evaluation checklist referral of a patient with pectus excavatum for genetic counseling [Through study completion, an average of 1 year]
Evaluation and validation of checklist referral of a patient with pectus excavatum for genetic counseling
Eligibility Criteria
Criteria
Inclusion Criteria:
- Patients with pectus excavatum aged younger than 11 years upon first visit of our outpatient clinic
Exclusion Criteria:
- None
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Erasmus Medical Center | Rotterdam | Zuid-Holland | Netherlands | 3015CE |
Sponsors and Collaborators
- Erasmus Medical Center
Investigators
- Principal Investigator: René M Wijnen, Erasmus Medical Center
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- MEC-2012-387