{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T20:14:00Z","timestamp":1781813640496,"version":"3.54.5"},"reference-count":39,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2020,9,1]],"date-time":"2020-09-01T00:00:00Z","timestamp":1598918400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":["www.atsjournals.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,9,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Rationale<\/jats:title>\n                    <jats:p>Pulmonary hypertension (PH) associated with neurofibromatosis type 1 (NF1) is a rare and largely unknown complication of NF1.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To describe characteristics and outcomes of PH-NF1.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We reported the clinical, functional, radiologic, histologic, and hemodynamic characteristics, response to pulmonary arterial hypertension (PAH)-approved drugs, and transplant-free survival of patients with PH-NF1 from the French PH registry.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Measurements and Main Results<\/jats:title>\n                    <jats:p>We identified 49 PH-NF1 cases, characterized by a female\/male ratio of 3.9 and a median (minimum\u2013maximum) age at diagnosis of 62 (18\u201382) years. At diagnosis, 92% were in New York Heart Association functional class III or IV. The 6-minute-walk distance was 211 (0\u2013460) m. Pulmonary function tests showed low DlCO (30% [12\u201379%]) and severe hypoxemia (PaO2 56 [38\u201399] mm Hg). Right heart catheterization showed severe precapillary PH with a mean pulmonary artery pressure of 45 (10) mm Hg and a pulmonary vascular resistance of 10.7 (4.2) Wood units. High-resolution computed tomography images revealed cysts (76%), ground-glass opacities (73%), emphysema (49%), and reticulations (39%). Forty patients received PAH-approved drugs with a significant improvement in functional class and hemodynamic parameters. Transplant-free survival at 1, 3, and 5 years was 87%, 54%, and 42%, respectively, and four patients were transplanted. Pathologic assessment showed nonspecific interstitial pneumonia and major pulmonary vascular remodeling.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>PH-NF1 is characterized by a female predominance, a low DlCO, and severe functional and hemodynamic impairment. Despite a potential benefit of PAH treatment, prognosis remains poor, and double-lung transplantation is an option for eligible patients.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1164\/rccm.202001-0105oc","type":"journal-article","created":{"date-parts":[[2020,5,21]],"date-time":"2020-05-21T17:25:48Z","timestamp":1590081948000},"page":"843-852","update-policy":"https:\/\/doi.org\/10.1164\/crossmarkpolicies","source":"Crossref","is-referenced-by-count":25,"title":["Phenotype and Outcomes of Pulmonary Hypertension Associated with Neurofibromatosis Type 1"],"prefix":"10.1093","volume":"202","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1374-1890","authenticated-orcid":false,"given":"Etienne-Marie","family":"Jutant","sequence":"first","affiliation":[{"name":"School of Medicine, Universit\u00e9 Paris-Saclay, Le Kremlin-Bic\u00eatre, France"},{"name":"INSERM UMR_S 999 Pulmonary Hypertension: Pathophysiology and Novel Therapies"},{"name":"Department of Respiratory and Intensive Care Medicine, Pulmonary Hypertension National Referral Center, H\u00f4pital Bic\u00eatre, Assistance Publique\u2013H\u00f4pitaux de Paris (AP-HP), Le Kremlin-Bic\u00eatre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavier","family":"Ja\u00efs","sequence":"additional","affiliation":[{"name":"School of Medicine, Universit\u00e9 Paris-Saclay, Le Kremlin-Bic\u00eatre, France"},{"name":"INSERM UMR_S 999 Pulmonary Hypertension: Pathophysiology and Novel Therapies"},{"name":"Department of Respiratory and Intensive Care Medicine, Pulmonary Hypertension National Referral Center, H\u00f4pital Bic\u00eatre, Assistance Publique\u2013H\u00f4pitaux de Paris (AP-HP), Le Kremlin-Bic\u00eatre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Girerd","sequence":"additional","affiliation":[{"name":"School of Medicine, Universit\u00e9 Paris-Saclay, Le Kremlin-Bic\u00eatre, France"},{"name":"INSERM UMR_S 999 Pulmonary Hypertension: Pathophysiology and Novel Therapies"},{"name":"Department of Respiratory and Intensive Care Medicine, Pulmonary Hypertension National Referral Center, H\u00f4pital Bic\u00eatre, Assistance Publique\u2013H\u00f4pitaux de Paris (AP-HP), Le Kremlin-Bic\u00eatre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Savale","sequence":"additional","affiliation":[{"name":"School of Medicine, Universit\u00e9 Paris-Saclay, Le Kremlin-Bic\u00eatre, France"},{"name":"INSERM UMR_S 999 Pulmonary Hypertension: Pathophysiology and Novel Therapies"},{"name":"Department of Respiratory and Intensive Care Medicine, Pulmonary Hypertension National Referral Center, H\u00f4pital Bic\u00eatre, Assistance Publique\u2013H\u00f4pitaux de Paris (AP-HP), Le Kremlin-Bic\u00eatre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria-Rosa","family":"Ghigna","sequence":"additional","affiliation":[{"name":"INSERM UMR_S 999 Pulmonary 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