{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,23]],"date-time":"2025-09-23T12:02:01Z","timestamp":1758628921754,"version":"3.41.2"},"reference-count":30,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"20","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["JAHA"],"published-print":{"date-parts":[[2020,10,20]]},"abstract":"<jats:sec xml:lang=\"en\">\n            <jats:title>Background<\/jats:title>\n            <jats:p xml:lang=\"en\">Patients with hereditary hemorrhagic telangiectasia have liver vascular malformations that can cause high\u2010output cardiac failure (HOCF). Known sequelae include pulmonary hypertension, tricuspid regurgitation, and atrial fibrillation.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec xml:lang=\"en\">\n            <jats:title>Methods and Results<\/jats:title>\n            <jats:p xml:lang=\"en\">\n              The objectives of this study were to describe the clinical, echocardiographic, and hemodynamic characteristics and prognosis of hereditary hemorrhagic telangiectasia patients with HOCF who were found to have a subaortic membrane (SAoM). A retrospective observational analysis comparing patients with and without SAoM was performed. Among a cohort of patients with HOCF, 9 were found to have a SAoM in the left ventricular outflow tract by echocardiography (all female, mean age 64.8\u00b14.0\u00a0years). The SAoM was discrete and located in the left ventricular outflow tract 1.1\u00b10.1\u00a0cm below the aortic annular plane. It caused turbulent flow, mild obstruction (peak velocity 2.8\u00b10.2\u00a0m\/s, peak gradient 32\u00b14\u00a0mm\u00a0Hg), and no more than mild aortic insufficiency. Patients with SAoM (n=9) had higher cardiac output (12.1\u00b11.3 versus 9.3\u00b10.7\u00a0L\/min,\n              <jats:italic>P<\/jats:italic>\n              =0.04) and mean pulmonary artery pressures (36\u00b13 versus 28\u00b12\u00a0mm\u00a0Hg,\n              <jats:italic>P<\/jats:italic>\n              =0.03) compared with those without SAoM (n=19) during right heart catheterization. Genetic analysis revealed activin receptor\u2010like kinase 1 mutations in each of the 8 patients with SAoM who had available test results. The presence of a SAoM was associated with a trend towards higher 5\u2010year mortality during follow\u2010up.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec xml:lang=\"en\">\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p xml:lang=\"en\">SAoM with mild obstruction occurs in patients with hereditary hemorrhagic telangiectasia and HOCF. SAoM was associated with features of more advanced HOCF and poor outcomes.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/jaha.120.016197","type":"journal-article","created":{"date-parts":[[2020,10,15]],"date-time":"2020-10-15T09:01:57Z","timestamp":1602752517000},"update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Subaortic Membranes in Patients With Hereditary Hemorrhagic Telangiectasia and Liver Vascular Malformations"],"prefix":"10.1161","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7487-9340","authenticated-orcid":false,"given":"Agnes S.","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Internal Medicine Calhoun Cardiology Center University of Connecticut School of Medicine Farmington CT"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katharine J.","family":"Henderson","sequence":"additional","affiliation":[{"name":"Section of Vascular and Interventional Radiology Department of Radiology and Biomedical Imaging Yale University School of Medicine New Haven CT"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sumeet","family":"Pawar","sequence":"additional","affiliation":[{"name":"Section of Cardiovascular Medicine Department of Internal Medicine Yale University School of Medicine New Haven CT"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min Jung","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Calhoun Cardiology Center University of Connecticut School of Medicine Farmington CT"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shahnaz","family":"Punjani","sequence":"additional","affiliation":[{"name":"Section of Cardiovascular Medicine Department of Internal Medicine Yale University School of Medicine New Haven CT"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeffrey S.","family":"Pollak","sequence":"additional","affiliation":[{"name":"Section of Vascular and Interventional Radiology Department of Radiology and Biomedical Imaging Yale University School of Medicine New Haven CT"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John T.","family":"Fahey","sequence":"additional","affiliation":[{"name":"Section of Cardiology Department of Pediatrics Yale University School of Medicine New Haven CT"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guadalupe","family":"Garcia\u2010Tsao","sequence":"additional","affiliation":[{"name":"Section of Digestive Disease Department of Internal Medicine Yale University School of Medicine New Haven CT"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lissa","family":"Sugeng","sequence":"additional","affiliation":[{"name":"Section of Cardiovascular Medicine Department of Internal Medicine Yale University School of Medicine New Haven CT"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0295-7298","authenticated-orcid":false,"given":"Lawrence H.","family":"Young","sequence":"additional","affiliation":[{"name":"Section of Cardiovascular Medicine Department of Internal Medicine Yale University School of Medicine New Haven CT"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"doi-asserted-by":"publisher","key":"e_1_3_1_2_2","DOI":"10.1056\/NEJM199510053331407"},{"doi-asserted-by":"publisher","key":"e_1_3_1_3_2","DOI":"10.1136\/jmg.2009.069013"},{"doi-asserted-by":"publisher","key":"e_1_3_1_4_2","DOI":"10.1038\/ncomms13650"},{"doi-asserted-by":"publisher","key":"e_1_3_1_5_2","DOI":"10.1086\/513903"},{"doi-asserted-by":"publisher","key":"e_1_3_1_6_2","DOI":"10.1038\/ng1294-345"},{"key":"e_1_3_1_7_2","first-page":"1","article-title":"Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era","author":"McDonald J","year":"2015","unstructured":"McDonald J, Wooderchak\u2010Donahue W, VanSant WC, Whitehead K, Stevenson DA, Bayrak\u2010Toydemir P. 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