Young Pectus Excavatum Patients and Genetic Defects

Erasmus University

Status: Completed

Conditions: Children, Adult; Genetic Disease; Pectus Excavatum

Treatments: Diagnostic Test: Genetic analysis

Study type: Observational

Funder types: Other

Identifiers

NCT05443113

MEC-2012-387

Details and patient eligibility

About

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?

Full 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

Enrollment: 18 patients

Sex: All

Ages: Under 11 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Patients with pectus excavatum aged younger than 11 years upon first visit of our outpatient clinic

Exclusion criteria

• None

Trial design

18 participants in 1 patient group

Children (<11 years) with pectus excavatum

Description:

All pediatric PE patients aged younger than 11 years upon first visit of our outpatient clinic

Treatment:

Diagnostic Test: Genetic analysis