Early-Onset Pectus Excavatum Is More Likely to Be Part of a Genetic Variation
Topic overview
This study demonstrates that pectus excavatum presenting before age 11 has a 44% association with underlying genetic conditions, including syndromic disorders, chromosomal abnormalities, and connective tissue diseases. The findings support routine genetic counseling referral for early-onset cases to identify treatable conditions and inform family planning.
Key takeaways
- 44% of children with PE onset before age 11 had identifiable pathogenic genetic variations, suggesting strong genetic component in early cases
- Early-onset PE was associated with syndromic disorders (Catel-Manzke, Noonan), chromosomal abnormalities, and connective tissue diseases
- PE presenting before age 11 warrants genetic counseling referral, unlike adolescent-onset cases which are less likely genetic
- Only one-fifth of PE cases present in first decade, making early-onset a distinct clinical entity requiring different evaluation approach
- Molecular analysis identified diverse genetic etiologies including 16p13.11 and 22q11.21 microduplications and BICD2 pathogenic variants
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How to cite: GlobalCastMD. Early-Onset Pectus Excavatum Is More Likely to Be Part of a Genetic Variation. GlobalCastMD Medical Library. 2023-05-19. https://dev.library.globalcastmd.com/article/8443?via_space=staycurrentmd
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