{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T02:41:46Z","timestamp":1790649706049,"version":"4.1.0"},"reference-count":85,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2018,10,17]],"date-time":"2018-10-17T00:00:00Z","timestamp":1539734400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant inherited disease characterised by multisystemic vascular dysplasia. Heritable pulmonary arterial hypertension (HPAH) is a rare but severe complication of HHT. Both diseases can be the result of genetic mutations in ACVLR1 and ENG encoding for proteins involved in the transforming growth factor-beta (TGF-\u03b2) superfamily, a signalling pathway that is essential for angiogenesis. Changes within this pathway can lead to both the proliferative vasculopathy of HPAH and arteriovenous malformations seen in HHT. Clinical signs of the disease combination may not be specific but early diagnosis is important for appropriate treatment. This review describes the molecular mechanism and management of HPAH and HHT.<\/jats:p>","DOI":"10.3390\/ijms19103203","type":"journal-article","created":{"date-parts":[[2018,10,17]],"date-time":"2018-10-17T10:22:54Z","timestamp":1539771774000},"page":"3203","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":40,"title":["Pulmonary Arterial Hypertension and Hereditary Haemorrhagic Telangiectasia"],"prefix":"10.3390","volume":"19","author":[{"given":"Veronique M. M.","family":"Vorselaars","sequence":"first","affiliation":[{"name":"Department of Cardiology, St. Antonius Hospital, 3435 CM Nieuwegein, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna E.","family":"Hosman","sequence":"additional","affiliation":[{"name":"Department of Pulmonology, St. Antonius Hospital, 3435 CM Nieuwegein, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cornelis J. J.","family":"Westermann","sequence":"additional","affiliation":[{"name":"Department of Pulmonology, St. Antonius Hospital, 3435 CM Nieuwegein, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Repke J.","family":"Snijder","sequence":"additional","affiliation":[{"name":"Department of Pulmonology, St. Antonius Hospital, 3435 CM Nieuwegein, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes J.","family":"Mager","sequence":"additional","affiliation":[{"name":"Department of Pulmonology, St. Antonius Hospital, 3435 CM Nieuwegein, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Jose","family":"Goumans","sequence":"additional","affiliation":[{"name":"Department of Molecular Cell Biology, Leiden University Medical Centre, 2333 ZA Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco C.","family":"Post","sequence":"additional","affiliation":[{"name":"Department of Cardiology, St. Antonius Hospital, 3435 CM Nieuwegein, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2018,10,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1093\/eurheartj\/ehv317","article-title":"2015 ESC\/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension: The joint task force for the diagnosis and treatment of pulmonary hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS): Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC), International Society for Heart and Lung Transplantation (ISHLT)","volume":"37","author":"Galie","year":"2016","journal-title":"Eur. 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