NCT05443113

Young Pectus Excavatum Patients and Genetic Defects

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

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 18 (actual)
• Sponsor: Erasmus Medical Center · Academic / Other
• Sex: All
• Age: 0 Years – 11 Years
• Healthy volunteers: Not accepted

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?

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

Conditions

• Genetic Disease
• Pectus Excavatum
• Children, Adult

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Genetic analysis	Genetic analysis by geneticists

Timeline

• Start date: 2019-09-01
• Primary completion: 2020-10-01
• Completion: 2020-10-01
• First posted: 2022-07-05
• Last updated: 2022-07-05

Locations

1 site across 1 country: Netherlands