{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T03:28:54Z","timestamp":1792985334621,"version":"4.5.0"},"reference-count":29,"publisher":"European Respiratory Society (ERS)","issue":"4","content-domain":{"domain":["publications.ersnet.org"],"crossmark-restriction":true},"short-container-title":["Eur Respir J"],"accepted":{"date-parts":[[2016,6,7]]},"published-print":{"date-parts":[[2016,10]]},"abstract":"<jats:p>The prevalence of germline mutations in paediatric pulmonary hypertension (PH) is poorly documented. The objective of this study was to determine the mutation frequency in PH genes in a paediatric cohort and describe the clinical characteristics of mutation carriers.<\/jats:p>\n                  <jats:p>The study involved 66 index cases with PH: 35 children with idiopathic pulmonary arterial hypertension (IPAH); five children with familial PAH (FPAH); three children with pulmonary veno-occlusive disease (PVOD); and 23 children with PAH associated with congenital heart disease (APAH-CHD).<\/jats:p>\n                  <jats:p>\n                    No mutations were found in the 23 children with APAH-CHD. In the 40 children with IPAH or FPAH, 12 mutations were found: five on\n                    <jats:italic>BMPR2<\/jats:italic>\n                    ; four on\n                    <jats:italic>ACVRL1<\/jats:italic>\n                    ; and three on\n                    <jats:italic>TBX4.<\/jats:italic>\n                    In the three PVOD cases, two carried the\n                    <jats:italic>EIF2AK4<\/jats:italic>\n                    mutation. Mutation carriers had a more severe disease at diagnosis and more aggressive first-line therapy was required. The three patients with PVOD had a very severe disease at diagnosis and required a lung transplantation.\n                  <\/jats:p>\n                  <jats:p>\n                    The genetic architecture of paediatric PAH is enriched in\n                    <jats:italic>ACVRL1<\/jats:italic>\n                    and\n                    <jats:italic>TBX4<\/jats:italic>\n                    mutations compared to adult PAH, but further studies are required to confirm these results. Childhood-onset PAH in children carrying a mutation in one of the genes tested has a more severe presentation at diagnosis but a similar outcome to that observed in non-carriers.\n                  <\/jats:p>","DOI":"10.1183\/13993003.00211-2016","type":"journal-article","created":{"date-parts":[[2016,9,1]],"date-time":"2016-09-01T22:09:05Z","timestamp":1472767745000},"page":"1118-1126","update-policy":"https:\/\/doi.org\/10.1183\/ers-crossmark-policy","source":"Crossref","is-referenced-by-count":115,"title":["Genetic analyses in a cohort of children with pulmonary 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