{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T00:51:08Z","timestamp":1781743868826,"version":"3.54.5"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T00:00:00Z","timestamp":1776988800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T00:00:00Z","timestamp":1781740800000},"content-version":"vor","delay-in-days":55,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100002839","name":"Charit\u00e9 - Universit\u00e4tsmedizin Berlin","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100002839","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Cardiac amyloidosis (CA), a fatal and progressive cardiomyopathy is characterized by amyloid deposition within the myocardium. The main forms of CA include transthyretin amyloidosis (ATTR-CM; distinguished into a hereditary and wildtype form [ATTRv and ATTRwt]) and light-chain amyloidosis (AL). Transthyretin amyloidosis with cardiomyopathy (ATTR-CM) is increasingly recognized among heart failure (HF) patients, despite its underestimated prevalence as a rare disease. ATTR-CM is challenging to diagnose due to its broad phenotypic overlap with HF, yet a timely differentiation of CA is crucial, as effective treatment can significantly improve quality of life. Machine learning (ML) approaches could enable earlier detection of ATTR-CM in routine care data. Data of ATTR-CM patients from the Amyloidosis Center Charit\u00e9 Berlin (2002-2023) and data from a cohort with heart failure and aortic stenosis screened for ATTR-CM were mapped from ICD-10-GM to ICD-10-CM and evaluated with an open-source random forest (RF) model based on ICD-10-CM codes which was previously validated in multiple external cohorts in the US and UK. In the cohort of patients with HF and aortic stenosis, cases of ATTR-CM were recognized using the algorithm, although it was not possible to distinguish between ATTRv-CM and ATTRwt-CM. Sensitivity and specificity were significantly lower than in the external validations in the US and UK. Model performance depended strongly on coding granularity and feature availability and contributed to the diminished predictive power. While the RF model showed moderate transferability under enriched conditions, reliance of geographically specific ICD-10 systems limits broader applicability due to coding discrepancies and information loss. These findings underscore the need for improved semantic harmonization of routine data, as well as the integration of rare disease specific ontologies such as the Human Phenotype Ontology (HPO) and ORPHAcodes to enhance cross-border ML-based assistance for timely diagnosing patients with rare diseases.<\/jats:p>","DOI":"10.1038\/s41598-026-49636-3","type":"journal-article","created":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T10:46:25Z","timestamp":1777027585000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Transferability of a US claims-based machine learning model for ATTRwt-CM identification: a retrospective evaluation in a German setting"],"prefix":"10.1038","volume":"16","author":[{"given":"Harisa","family":"Muratovic-Colic","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam R.","family":"H\u00fcbner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan-Filip","family":"Rehburg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Mattig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul J.","family":"Wetzel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrin","family":"Wrede-Wihl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena F.","family":"Pernice","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gina","family":"Barzen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Wieder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jakub","family":"Piwowarski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Bohl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vera","family":"von Landenberg-Roberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Messroghli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastian","family":"Spethmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"R\u00f6ttger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josef","family":"Schepers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrin","family":"Hahn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,4,24]]},"reference":[{"key":"49636_CR1","unstructured":"Orphanet.: Wild type ATTR amyloidosis. ORPHA:330001. Available from: https:\/\/www.orpha.net\/en\/disease\/detail\/330001."},{"issue":"10","key":"49636_CR2","doi-asserted-by":"publisher","first-page":"1014","DOI":"10.1016\/j.jacc.2016.06.033","volume":"68","author":"M Grogan","year":"2016","unstructured":"Grogan, M. et al. Natural history of wild-type transthyretin cardiac amyloidosis and risk stratification using a novel staging system. J. Am. Coll. Cardiol. 68(10), 1014\u20131020. https:\/\/doi.org\/10.1016\/j.jacc.2016.06.033 (2016).","journal-title":"J. Am. Coll. Cardiol."},{"issue":"2","key":"49636_CR3","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1080\/13506129.2021.2014448","volume":"29","author":"F Kleefeld","year":"2022","unstructured":"Kleefeld, F. et al. Same same, but different? The neurological presentation of wildtype transthyretin (ATTRwt) amyloidosis. Amyloid 29(2), 92\u2013101. https:\/\/doi.org\/10.1080\/13506129.2021.2014448 (2022).","journal-title":"Amyloid"},{"issue":"1","key":"49636_CR4","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-024-60025-6","volume":"14","author":"HF Pernice","year":"2024","unstructured":"Pernice, H. F. et al. Neurological affection and serum neurofilament light chain in wild type transthyretin amyloidosis. Sci. Rep. 14(1), 10111. https:\/\/doi.org\/10.1038\/s41598-024-60025-6 (2024).","journal-title":"Sci. Rep."},{"issue":"2","key":"49636_CR5","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1016\/j.jacc.2020.11.006","volume":"77","author":"C Nitsche","year":"2021","unstructured":"Nitsche, C. et al. Prevalence and Outcomes of Concomitant Aortic Stenosis and Cardiac Amyloidosis. J. Am. Coll. Cardiol. 77(2), 128\u2013139. https:\/\/doi.org\/10.1016\/j.jacc.2020.11.006 (2021).","journal-title":"J. Am. Coll. 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Available from: https:\/\/CRAN.R-project.org\/package=ICD10gm."}],"container-title":["Scientific Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41598-026-49636-3","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-026-49636-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41598-026-49636-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T23:54:36Z","timestamp":1781740476000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41598-026-49636-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,24]]},"references-count":20,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["49636"],"URL":"https:\/\/doi.org\/10.1038\/s41598-026-49636-3","relation":{},"ISSN":["2045-2322"],"issn-type":[{"value":"2045-2322","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,24]]},"assertion":[{"value":"5 March 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 April 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 April 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"K.H. received financial reimbursement for consulting, advisory boards, educational activities and travel support by Akcea, Alnylam, Amicus, AstraZeneca, Bayer, Bridge Bio, GSK, Hormosan, SOBI, Pfizer, ViiV and Takeda. She also received research funding by Alnylam, Pfizer and the foundation Charit\u00e9 (BIH clinical fellow, BIH digital accelerator). Nothing was related to this project. S.S. reports scientific grants from Innovation Committee at the Federal Joint Committee (G-BA), Pfizer Pharma GmbH, and Apple Inc.; Honoraria for lectures from Novartis Pharma GmbH, AstraZeneca GmbH, Pfizer Pharma GmbH, Alnylam Netherlands B.V., and Bayer Vital GmbH; travel fees from Pfizer Pharma GmbH, Alnylam Netherlands B.V., AstraZeneca GmbH, and Boehringer Ingelheim; Advisory fees from Novartis Pharma GmbH, Pfizer Pharma GmbH, Bayer Vital GmbH, Alnylam Netherlands B.V., and Bayer Vital GmbH. V.R.L. has received speaker fees from Johnson&Johnson and Sanofi unrelated to this project. G.B. received personal funding by Alnylam Pharmaceuticals Inc. H.P. has received personal funding, travel support, and speaker fees by Alnylam Pharmaceuticals Inc. HP also received personal funding by Deutsche Gesellschaft f\u00fcr Muskelkranke (DGM) GmbH and Berlin Institute of Health (BIH) unrelated to this project. D.M. received research funding from Pfizer Pharma GmbH, lecture fees from Pfizer Pharma GmbH and Alnylam Pharmaceuticals Inc., and financial reimbursement for consulting and advisory board activities from Bayer Vital GmbH. I.M. has received research grants from Pfizer Pharmaceuticals and Sanofi; and has received lecture fee and financial reimbursement for advisory board activities from Sanofi, Takeda, Pfizer Pharmaceuticals, BridgeBio, Bayer, Doctorflix, Amicus, and Chiesi Farmaceutici S.p.A outside the submitted work.\u00a0Remaining authors declare no conflicts of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"The study obtained ethics approval from the Ethics Committee of Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, Campus Charit\u00e9 Mitte, under application numbers EA1\/014\/20 and EA4\/235\/20. All participants gave informed consent before taking part. All patient data were fully pseudonymized, and individuals are not identifiable. The research publication is granted via the signed patient consent form and all participants gave informed consent before taking part.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"All authors declare their consent for publication.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}}],"article-number":"18966"}}