Abstract
Background Potential underlying genetic variations of pectus excavatum (PE) are quite rare.
Only one-fifth of PE cases are identified in the first decade of life and thus are
of congenital origin. The objective of this study is to test if early-onset PE is
more likely to be part of genetic variations than PE that becomes apparent during
puberty or adolescence.
Materials and Methods Children younger than 11 years who presented with PE to the outpatient clinic of
the Department of Pediatric Surgery at our center between 2014 and 2020 were screened
by two clinical geneticists separately. Molecular analysis was performed based on
the differential diagnosis. Data of all young PE patients who already had been referred
for genetic counseling were analyzed retrospectively.
Results Pathogenic genetic variations were found in 8 of the 18 participants (44%): 3 syndromic
disorders (Catel–Manzke syndrome and two Noonan syndromes), 3 chromosomal disorders
(16p13.11 microduplication syndrome, 22q11.21 microduplication syndrome, and genetic
gain at 1q44), 1 connective tissue disease (Loeys–Dietz syndrome), and 1 neuromuscular
disorder (pathogenic variation in BICD2 gene).
Conclusion Early-onset PE is more likely to be part of genetic variations than PE that becomes
apparent during puberty or adolescence. Referral for genetic counseling should therefore
be considered.
Trial Registration: NCT05443113
Keywords
surgery - chest anomaly - genetics - pediatrics
