{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T18:48:15Z","timestamp":1792608495149,"version":"4.5.0"},"reference-count":31,"publisher":"European Respiratory Society (ERS)","issue":"6","license":[{"start":{"date-parts":[[2022,5,26]],"date-time":"2022-05-26T00:00:00Z","timestamp":1653523200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["publications.ersnet.org"],"crossmark-restriction":true},"short-container-title":["Eur Respir J"],"accepted":{"date-parts":[[2022,5,17]]},"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>The phenotype of pulmonary arterial hypertension (PAH) patients carrying<jats:italic>SOX17<\/jats:italic>pathogenic variants remains mostly unknown.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report the genetic analysis findings, characteristics and outcomes of patients with heritable PAH carrying<jats:italic>SOX17<\/jats:italic>variants from the French Pulmonary Hypertension Network.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>20 patients and eight unaffected relatives were identified. The median (range) age at diagnosis was 17 (2\u201353)\u2005years, with a female:male ratio of 1.5. At diagnosis, most of the patients (74%) were in New York Heart Association Functional Class III or IV with severe haemodynamic compromise, including a median pulmonary vascular resistance of 14.0 (4.2\u201331.5)\u2005WU. An associated congenital heart disease (CHD) was found in seven PAH patients (35%). Patients with CHD-associated PAH were significantly younger at diagnosis than PAH patients without CHD. Four patients (20%) suffered from recurrent haemoptysis requiring repeated arterial embolisations. 13 out of 16 patients (81%) for whom imaging was available displayed chest computed tomography abnormalities, including dilated, tortuous pulmonary vessels, ground-glass opacities as well as anomalies of the bronchial and nonbronchial arteries. After a median (range) follow-up of 47 (1\u2013591)\u2005months, 10 patients underwent lung transplantation and one patient benefited from a heart\u2013lung transplantation due to associated CHD. Histopathological analysis of lung explants showed a congested lung architecture with severe pulmonary arterial remodelling, subpleural vessel dilation and numerous haemorrhagic foci.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>PAH due to<jats:italic>SOX17<\/jats:italic>pathogenic variants is a severe phenotype, frequently associated with CHD, haemoptysis and radiological abnormalities. Pathological assessment reveals severe pulmonary arterial remodelling and malformations affecting pulmonary vessels and thoracic systemic arteries.<\/jats:p><\/jats:sec>","DOI":"10.1183\/13993003.00656-2022","type":"journal-article","created":{"date-parts":[[2022,5,26]],"date-time":"2022-05-26T16:05:39Z","timestamp":1653581139000},"page":"2200656","update-policy":"https:\/\/doi.org\/10.1183\/ers-crossmark-policy","source":"Crossref","is-referenced-by-count":45,"title":["An emerging phenotype of pulmonary arterial hypertension patients 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