{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T07:50:08Z","timestamp":1753861808557,"version":"3.41.2"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,10,11]],"date-time":"2024-10-11T00:00:00Z","timestamp":1728604800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Congenital pulmonary anomalies in Turner syndrome (TS) are rarely reported. Herein, we describe a female with TS who presented with emphysema in infancy and developed pulmonary hypertension in adulthood. A 4\u2010month\u2010old patient presented with recurrent emesis and failure to thrive. Diagnostic testing indicated cardiomegaly and echocardiogram revealed abnormalities including left aortic arch with aberrant right subclavian artery, aortic coarctation, and left ventricular (LV) dysfunction. At 19\u2010months, she underwent surgical intervention through a lateral thoracotomy which exposed numerous small air\u2010filled blebs over the left lung. She had persistent LV dysfunction postoperatively. At 12\u2010years\u2010old, genetic testing revealed 45,X\/46,Xidic(Y)(q11.22) and she subsequently received routine treatment for Turner syndrome. At 23\u2010years\u2010old, this patient presented to the emergency department with dyspnea, worsening cough, and edema. Echocardiogram demonstrated a reduced LVEF, aortic valve insufficiency, and pulmonary artery (PA) hypertension. CT chest showed multiple apical blebs and cardiac catheterization demonstrated pulmonary hypertension. She was treated with intravenous diuresis and cessation of Humira, which normalized LVEF and reduced PA pressure. Repeat cardiac catheterization 6\u2009months later indicated elevated LVEDP, pulmonary vascular resistance, and mean PA pressures. Altered lymphatic drainage in utero of patients with TS may lead to emphysematous changes in the lungs. These changes may not raise concern in infancy but can possibly contribute to cardiopulmonary pathology in the future. We recommend ongoing routine care to monitor for acquired cardiopulmonary co\u2010morbidities. Bullous lung disease may occur due to altered lymphatic drainage in patients with TS and may be a risk factor for developing or contributing to pulmonary hypertension.<\/jats:p>","DOI":"10.1002\/ajmg.a.63908","type":"journal-article","created":{"date-parts":[[2024,10,11]],"date-time":"2024-10-11T10:40:01Z","timestamp":1728643201000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Bullous Lung Disease in Turner Syndrome: An Underrecognized Comorbidity?"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-0920-8666","authenticated-orcid":false,"given":"Stevin","family":"Lu","sequence":"first","affiliation":[{"name":"Creighton Medical School University of Nebraska Medical Center  Omaha Nebraska USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9212-2499","authenticated-orcid":false,"given":"Lois J.","family":"Starr","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Nebraska Medical Center  Omaha Nebraska USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rachel A.","family":"Taylor","sequence":"additional","affiliation":[{"name":"Divisions of Medical Genetics and Cardiology University of Nebraska Medical Center  Omaha Nebraska USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anji T.","family":"Yetman","sequence":"additional","affiliation":[{"name":"Divisions of Medical Genetics and Cardiology University of Nebraska Medical Center  Omaha Nebraska USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,10,11]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.5582\/irdr.2017.01056"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.cir.21.3.419"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/HJH.0000000000000599"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.23750\/abm.v90i3.8737"},{"issue":"8","key":"e_1_2_6_6_1","first-page":"449","article-title":"Enfisema Pulmonar Em Doente Com S\u00edndrome de Turner [Pulmonary Emphysema in a Patient With Turner's Syndrome]","volume":"5","author":"Sousa A. M.","year":"1992","journal-title":"Acta Medica Portuguesa"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/dc.25254"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.4103\/0970\u20102113.152653"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.chc.2007.02.004"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.4070\/kcj.2015.45.5.357"},{"issue":"3","key":"e_1_2_6_11_1","first-page":"405","article-title":"Turner Syndrome: Diagnosis and Management","volume":"76","author":"Morgan T.","year":"2007","journal-title":"American Family Physician"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.4103\/2156\u20107514.124087"},{"issue":"3","key":"e_1_2_6_13_1","first-page":"42","article-title":"Retsidiviruiushchi\u012d spontanny\u012d Pnevmotoraks Pri bullezno\u012d \u00e9mfizeme u bol'no\u012d s Sindromom Shereshevskogo\u2010Ternera [Recurrent Spontaneous Pneumothorax in Bullous Emphysema in a Female Patient With Shereshevski\u012d\u2010Turner Syndrome]","volume":"33","author":"Pribylova N. N.","year":"1987","journal-title":"Problemy E\u030andokrinologii"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010022\u201008617\u2010y"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2020.10.009"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjcard.2018.03.357"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63908","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,3]],"date-time":"2025-01-03T05:47:03Z","timestamp":1735883223000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63908"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,11]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,2]]}},"alternative-id":["10.1002\/ajmg.a.63908"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63908","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2024,10,11]]},"assertion":[{"value":"2024-05-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-28","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-11","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63908"}}