{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T10:30:11Z","timestamp":1773052211853,"version":"3.50.1"},"reference-count":11,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circ: Heart Failure"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:sec>\n            <jats:title>Background:<\/jats:title>\n            <jats:p>\n              Transthyretin amyloid cardiomyopathy (ATTR-CM) is a morbid condition, though recent advances in diagnosis and therapy stand to change its natural history. Patients\u2019\n              <jats:italic>TTR<\/jats:italic>\n              genotype may guide family screening as more treatments and preventive strategies become available. An efficient, intuitive means of determining pretest genetic risk may better inform patients\/clinicians when pursuing genetic testing.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods:<\/jats:title>\n            <jats:p>\n              This is a cohort study of 767 consecutive patients diagnosed with ATTR-CM who underwent genetic testing. Classification and regression trees (CART) analysis created a decision tree assessing likelihood of carrying a pathologic\n              <jats:italic>TTR<\/jats:italic>\n              gene variant. Age, sex, and race were used as independent variables. Logistic regression was also performed to model probability of pathologic\n              <jats:italic>TTR<\/jats:italic>\n              genotype. The primary outcome was the decision tree\u2019s accuracy in 2 separate institutions\u2019 ATTR-CM registry.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results:<\/jats:title>\n            <jats:p>\n              In our study cohort, 208 patients (27.1%) had ATTRv. Race has served most efficiently as the root node followed by age and sex in a CART algorithm, and showed 88.2% accuracy (75.3% sensitivity, 93.9% specificity) in the validation cohort. The odds of having a\n              <jats:italic>TTR<\/jats:italic>\n              gene variant were greater in Black patients compared with non-Black patients (OR, 34.6 [95% CI, 20.5\u201358.3];\n              <jats:italic>P<\/jats:italic>\n              &lt;0.001). Non-Black patients with ATTR-CM aged 69 years and older had &lt;4% risk of having a predisposing mutation.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions:<\/jats:title>\n            <jats:p>\n              This CART algorithm incorporating age, sex, and race was able to determine which patients with ATTR-CM have pathogenic\n              <jats:italic>TTR<\/jats:italic>\n              mutations with high specificity. Non-Black patients diagnosed at age 69 years or older with ATTR-CM have a low likelihood to have ATTRv.\n            <\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/circheartfailure.122.009908","type":"journal-article","created":{"date-parts":[[2023,1,20]],"date-time":"2023-01-20T10:00:12Z","timestamp":1674208812000},"update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["Predictive Modeling to Assess Pretest Probability of Transthyretin Gene Variants Based on Demographic Information"],"prefix":"10.1161","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1896-6423","authenticated-orcid":true,"given":"Joshua","family":"Saef","sequence":"first","affiliation":[{"name":"Kaufman Center for Heart Failure Treatment and Recovery, Heart Vascular and Thoracic Institute, Cleveland Clinic Foundation, OH (J.S., T.M., L.I., M.H., W.H.W.T.)."},{"name":"Philadelphia Adult Congenital Heart Center, Penn Medicine and Children\u2019s Hospital of Philadelphia, University of Pennsylvania (J.S.)."},{"name":"Department of Cardiovascular Medicine, Heart Vascular and Thoracic Institute, Cleveland Clinic Foundation, OH (J.S., T.M., L.I., M.H., W.H.W.T.)."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Trejeeve","family":"Martyn","sequence":"additional","affiliation":[{"name":"Kaufman Center for Heart Failure Treatment and Recovery, Heart Vascular and Thoracic Institute, Cleveland Clinic Foundation, OH (J.S., T.M., L.I., M.H., W.H.W.T.)."},{"name":"Department of Cardiovascular Medicine, Heart Vascular and Thoracic Institute, Cleveland Clinic Foundation, OH (J.S., T.M., L.I., M.H., W.H.W.T.)."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5671-9557","authenticated-orcid":true,"given":"Lauren","family":"Ives","sequence":"additional","affiliation":[{"name":"Kaufman Center for Heart Failure Treatment and Recovery, Heart Vascular and Thoracic Institute, Cleveland Clinic Foundation, OH (J.S., T.M., L.I., M.H., W.H.W.T.)."},{"name":"Department of Cardiovascular Medicine, Heart Vascular and Thoracic Institute, Cleveland Clinic Foundation, OH (J.S., T.M., L.I., M.H., W.H.W.T.)."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0399-8315","authenticated-orcid":true,"given":"Lori R.","family":"Roth","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas (L.R.R., J.L.G.)."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2400-3196","authenticated-orcid":true,"given":"Justin L.","family":"Grodin","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas (L.R.R., J.L.G.)."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1867-0526","authenticated-orcid":true,"given":"Mathew S.","family":"Maurer","sequence":"additional","affiliation":[{"name":"Clinical Cardiovascular Research Laboratory for the Elderly, Columbia University College of Physicians and Surgeons, New York, NY (M.S.M.)."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mazen","family":"Hanna","sequence":"additional","affiliation":[{"name":"Kaufman Center for Heart Failure Treatment and Recovery, Heart Vascular and Thoracic Institute, Cleveland Clinic Foundation, OH (J.S., T.M., L.I., M.H., W.H.W.T.)."},{"name":"Department of Cardiovascular Medicine, Heart Vascular and Thoracic Institute, Cleveland Clinic Foundation, OH (J.S., T.M., L.I., M.H., W.H.W.T.)."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8335-735X","authenticated-orcid":true,"given":"W.H. Wilson","family":"Tang","sequence":"additional","affiliation":[{"name":"Kaufman Center for Heart Failure Treatment and Recovery, Heart Vascular and Thoracic Institute, Cleveland Clinic Foundation, OH (J.S., T.M., L.I., M.H., W.H.W.T.)."},{"name":"Department of Cardiovascular Medicine, Heart Vascular and Thoracic Institute, Cleveland Clinic Foundation, OH (J.S., T.M., L.I., M.H., W.H.W.T.)."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrcardio.2010.67"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.111.078915"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-31"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2016.03.596"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.3109\/13506129.2015.1051219"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCHEARTFAILURE.118.005407"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2005.05.073"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaccao.2021.06.006"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIR.0000000000000792"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jchf.2021.09.006"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-021-22876-9"}],"container-title":["Circulation: Heart Failure"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ahajournals.org\/doi\/full\/10.1161\/CIRCHEARTFAILURE.122.009908","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,13]],"date-time":"2024-05-13T01:19:13Z","timestamp":1715563153000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ahajournals.org\/doi\/10.1161\/CIRCHEARTFAILURE.122.009908"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4]]},"references-count":11,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,4]]}},"alternative-id":["10.1161\/CIRCHEARTFAILURE.122.009908"],"URL":"https:\/\/doi.org\/10.1161\/circheartfailure.122.009908","relation":{},"ISSN":["1941-3289","1941-3297"],"issn-type":[{"value":"1941-3289","type":"print"},{"value":"1941-3297","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,4]]},"assertion":[{"value":"2022-06-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-12-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-01-20","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}