{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T20:14:02Z","timestamp":1781813642112,"version":"3.54.5"},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,7,9]],"date-time":"2025-07-09T00:00:00Z","timestamp":1752019200000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pulm. circ."],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In a recent study conducted by Laura Stourm et al., the authors identified that patients with pulmonary hypertension (PH) harboring loss\u2010of\u2010function variants in the <jats:italic>Filamin A (FLNA)<\/jats:italic> gene exhibit a unique spectrum of phenotypes. These include pulmonary involvement with lung parenchymal abnormalities and emphysema, as well as a range of extrapulmonary manifestations such as dysmorphic facial features, epilepsy, congenital heart defects, valvular and aortic diseases, thrombocytopenia, and periventricular nodular heterotopia (PVNH). Based on these findings, the study advocates for <jats:italic>FLNA<\/jats:italic> genetic screening in patients with PH who present with these specific phenotypic features. Here, we describe a clinical case that aligns closely with the observations reported in their study.<\/jats:p>","DOI":"10.1002\/pul2.70110","type":"journal-article","created":{"date-parts":[[2025,7,10]],"date-time":"2025-07-10T02:38:53Z","timestamp":1752115133000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A Patient With Pulmonary Hypertension Carrying <i>FLNA<\/i> Loss\u2010of\u2010Function Variant"],"prefix":"10.1002","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4898-1907","authenticated-orcid":false,"given":"Zongye","family":"Cai","sequence":"first","affiliation":[{"name":"Department of Cardiology, The Second Affiliated Hospital Zhejiang University School of Medicine Hangzhou China"},{"name":"State Key Laboratory of Transvascular Implantation Devices Hangzhou China"},{"name":"Heart Regeneration and Repair Key Laboratory of Zhejiang province Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuangxiang","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Radiology, The Second Affiliated Hospital Zhejiang University School of Medicine Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nan","family":"Jin","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Second Affiliated Hospital Zhejiang University School of Medicine Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yahong","family":"Fu","sequence":"additional","affiliation":[{"name":"Department of Cardiology, The Second Affiliated Hospital Zhejiang University School of Medicine Hangzhou China"},{"name":"State Key Laboratory of Transvascular Implantation Devices Hangzhou China"},{"name":"Heart Regeneration and Repair Key Laboratory of Zhejiang province Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5939-0440","authenticated-orcid":false,"given":"Ying","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Nuclear Medicine, The Second Affiliated Hospital Zhejiang University School of Medicine Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jifang","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Cardiology, The Second Affiliated Hospital Zhejiang University School of Medicine Hangzhou China"},{"name":"State Key Laboratory of Transvascular Implantation Devices Hangzhou China"},{"name":"Heart Regeneration and Repair Key Laboratory of Zhejiang province Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yue","family":"Mao","sequence":"additional","affiliation":[{"name":"Department of Cardiology, The Second Affiliated Hospital Zhejiang University School of Medicine Hangzhou China"},{"name":"State Key Laboratory of Transvascular Implantation Devices Hangzhou China"},{"name":"Heart Regeneration and Repair Key Laboratory of Zhejiang province Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanshi","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Cardiology, The Second Affiliated Hospital Zhejiang University School of Medicine Hangzhou China"},{"name":"State Key Laboratory of Transvascular Implantation Devices Hangzhou China"},{"name":"Heart Regeneration and Repair Key Laboratory of Zhejiang province Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9358-6922","authenticated-orcid":false,"given":"David","family":"Montani","sequence":"additional","affiliation":[{"name":"School of Medicine University of Paris\u2010Saclay Le Kremlin\u2010Bic\u00eatre France"},{"name":"INSERM UMR_S 999 \u201cPulmonary Hypertension: Pathophysiology and Novel Therapies\u201d Marie Lannelongue Hospital Le Plessis Robinson France"},{"name":"AP\u2010HP, Department of Respiratory and Intensive Care Medicine, Pulmonary Hypertension National Referral Centre (ERN Lung, FHU Andr\u00e9 Cournand) Bic\u00eatre Hospital Le Kremlin\u2010Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6926-9516","authenticated-orcid":false,"given":"Jun","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Cardiology, The Second Affiliated Hospital Zhejiang University School of Medicine Hangzhou China"},{"name":"State Key Laboratory of Transvascular Implantation Devices Hangzhou China"},{"name":"Heart Regeneration and Repair Key Laboratory of Zhejiang province Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,7,9]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm201"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.00313-2022"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.02311-2021"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2021-247268"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.01132-2024"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.02340-2019"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200712-1807OC"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.00656-2022"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.01634-2023"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200908-1284OC"}],"container-title":["Pulmonary Circulation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pul2.70110","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,26]],"date-time":"2025-09-26T05:48:56Z","timestamp":1758865736000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pul2.70110"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,7]]}},"alternative-id":["10.1002\/pul2.70110"],"URL":"https:\/\/doi.org\/10.1002\/pul2.70110","archive":["Portico"],"relation":{},"ISSN":["2045-8940","2045-8940"],"issn-type":[{"value":"2045-8940","type":"print"},{"value":"2045-8940","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,7]]},"assertion":[{"value":"2025-03-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-06-03","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-09","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70110"}}