Ciliopathy gene variants and perioperative respiratory outcomes in infants with heterotaxy syndrome and congenital heart disease

BACKGROUND: Ciliary dysfunction underlies the pathogenesis of both heterotaxy syndrome and primary ciliary dyskinesia (PCD), often with overlapping genetic variants. OBJECTIVE: This case series aims to describe testing postoperative outcomes for infants heterotaxy-associated congenital heart disease (H-CHD) pathogenic variants in genes associated structure or function. METHODS: Infants who underwent surgery H-CHD between 2017 2022 were included this single-center review. The results testing, microarray sequencing-based tests, reviewed. Baseline clinical data are summarized individuals genes. RESULTS: Of 32 surgery, 12 had testing. A variant ciliopathy was reported 10 (83%), 3 (25%) diagnostic PCD 2 (17%) considered possibly diagnostic. high prevalence respiratory complications, however a relationship test complications could not be proven. All diagnosis showed symptoms on follow-up. CONCLUSIONS: Sequencing-based has detection rate may valuable given their increased risk after surgery.