Pediatric pulmonology
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Pediatric pulmonology · Mar 2021
ReviewGenes that drive the pathobiology of pediatric pulmonary arterial hypertension.
Emerging data from studies of pediatric-onset pulmonary arterial hypertension (PAH) indicate that the genomics of pediatric PAH is different than that of adults. There is a greater genetic burden in children, with rare genetic factors contributing to at least 35% of pediatric-onset idiopathic PAH (IPAH) compared with ~11% of adult-onset IPAH. De novo variants are the most frequent genetic cause of PAH in children, likely contributing to ~15% of all cases. ⋯ SRY-related HMG box transcription factor (SOX17) was recently identified as an APAH-CHD risk gene, contributing less frequently to IPAH, with a greater prevalence of rare deleterious variants in children compared with adults. The differences in genetic burden and genes underlying pediatric- vs adult-onset PAH indicate that genetic information relevant to pediatric PAH cannot be extrapolated from adult studies. Large cohorts of pediatric-onset PAH are necessary to identify the unique etiological differences of PAH in children, as well as the natural history and response to therapy.