{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T05:55:25Z","timestamp":1773726925989,"version":"3.50.1"},"reference-count":13,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,10,15]],"date-time":"2024-10-15T00:00:00Z","timestamp":1728950400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,10,15]],"date-time":"2024-10-15T00:00:00Z","timestamp":1728950400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Bone scintigraphy (BS) is established as an accurate, non-invasive method for the diagnosis of transthyretin amyloid cardiomyopathy (ATTR-CM). In a real-life setting, however, some patients with no cardiac uptake on BS turn out to have cardiac-biopsy-confirmed ATTR-CM. We retrospectively included all patients diagnosed at the French Referral Center for ATTR-CM and who had data for BS and a cardiac biopsy.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Of 271 patients with positive cardiac biopsy, 14 (5%) had no cardiac uptake on <jats:sup>99m<\/jats:sup>Tc-hydroxymethylene diphosphonate BS. Cardiac uptake was found in four of the seven patients who had a second BS assessment with <jats:sup>99m<\/jats:sup>Tc-3,3-diphosphono-1,2-propanodicarboxylic acid (DPD). A retrospective review of the BS data found low cardiac uptake in four patients (two with HMDP and two with both radiotracers). Ultimately, six of the 14 patients with a biopsy-confirmed diagnosis of ATTR-CM did not show any cardiac radiotracer uptake.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>An endomyocardial biopsy may be necessary for confirming the diagnosis of ATTR-CM in patients with clinical and imaging signs of cardiac amyloidosis but no cardiac radiotracer uptake in BS.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13023-024-03401-9","type":"journal-article","created":{"date-parts":[[2024,10,15]],"date-time":"2024-10-15T14:39:56Z","timestamp":1729003196000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A series of cases of transthyretin amyloid cardiomyopathy with negative bone scintigraphy but a confirmed positive endomyocardial biopsy"],"prefix":"10.1186","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9932-2274","authenticated-orcid":false,"given":"Antoine","family":"Fraix","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emmanuel","family":"Itti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amira","family":"Zaroui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mounira","family":"Kharoubi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elsa","family":"Poullot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lionel","family":"Lerman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soulef","family":"Guendouz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olivier","family":"Huttin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thibaud","family":"Damy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arnault","family":"Galat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,10,15]]},"reference":[{"issue":"16","key":"3401_CR1","doi-asserted-by":"publisher","first-page":"1554","DOI":"10.1093\/eurheartj\/ehab072","volume":"42","author":"P Garcia-Pavia","year":"2021","unstructured":"Garcia-Pavia P, Rapezzi C, Adler Y, Arad M, Basso C, Brucato A, et al. Diagnosis and treatment of cardiac amyloidosis: a position statement of the ESC Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2021;42(16):1554\u201368.","journal-title":"Eur Heart J"},{"issue":"24","key":"3401_CR2","doi-asserted-by":"publisher","first-page":"2404","DOI":"10.1161\/CIRCULATIONAHA.116.021612","volume":"133","author":"JD Gillmore","year":"2016","unstructured":"Gillmore JD, Maurer MS, Falk RH, Merlini G, Damy T, Dispenzieri A, et al. Nonbiopsy diagnosis of cardiac transthyretin amyloidosis. Circulation. 2016;133(24):2404\u201312.","journal-title":"Circulation"},{"issue":"24","key":"3401_CR3","doi-asserted-by":"publisher","first-page":"2187","DOI":"10.1093\/eurheartj\/ehad139","volume":"44","author":"MU Rauf","year":"2023","unstructured":"Rauf MU, Hawkins PN, Cappelli F, Perfetto F, Zampieri M, Argiro A, et al. Tc-99m labelled bone scintigraphy in suspected cardiac amyloidosis. Eur Heart J. 2023;44(24):2187\u201398.","journal-title":"Eur Heart J"},{"issue":"5","key":"3401_CR4","doi-asserted-by":"publisher","first-page":"601","DOI":"10.1016\/j.jcmg.2016.05.007","volume":"10","author":"A Galat","year":"2017","unstructured":"Galat A, Van der Gucht A, Guellich A, Bodez D, Cottereau AS, Guendouz S, et al. Early phase 99Tc-HMDP scintigraphy for the diagnosis and typing of cardiac amyloidosis. JACC Cardiovasc Imaging. 2017;10(5):601\u20133.","journal-title":"JACC Cardiovasc Imaging"},{"issue":"12","key":"3401_CR5","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1146\/annurev-pathol-052016-100200","volume":"24","author":"A Dogan","year":"2017","unstructured":"Dogan A. Amyloidosis: insights from proteomics. Annu Rev Pathol. 2017;24(12):277\u2013304.","journal-title":"Annu Rev Pathol"},{"issue":"1","key":"3401_CR6","first-page":"96","volume":"30","author":"F Noborn","year":"2023","unstructured":"Noborn F, Thomsen C, Vorontsov E, Bobbio E, Sihlbom C, Nilsson J, et al. Subtyping of cardiac amyloidosis by mass spectrometry-based proteomics of endomyocardial biopsies. Amyloid Int J Exp Clin Investig Off J Int Soc Amyloidosis. 2023;30(1):96\u2013108.","journal-title":"Amyloid Int J Exp Clin Investig Off J Int Soc Amyloidosis"},{"issue":"22","key":"3401_CR7","doi-asserted-by":"publisher","first-page":"2851","DOI":"10.1016\/j.jacc.2020.04.022","volume":"75","author":"M Hanna","year":"2020","unstructured":"Hanna M, Ruberg FL, Maurer MS, Dispenzieri A, Dorbala S, Falk RH, et al. Cardiac scintigraphy with technetium-99m-labeled bone-seeking tracers for suspected amyloidosis: JACC review topic of the week. J Am Coll Cardiol. 2020;75(22):2851\u201362.","journal-title":"J Am Coll Cardiol"},{"issue":"1","key":"3401_CR8","first-page":"217","volume":"25","author":"M Abulizi","year":"2018","unstructured":"Abulizi M, Cottereau AS, Guellich A, Vandeventer S, Galat A, Van Der Gucht A, et al. Early-phase myocardial uptake intensity of 99mTc-HMDP vs 99mTc-DPD in patients with hereditary transthyretin-related cardiac amyloidosis. J Nucl Cardiol Off Publ Am Soc Nucl Cardiol. 2018;25(1):217\u201322.","journal-title":"J Nucl Cardiol Off Publ Am Soc Nucl Cardiol"},{"issue":"6","key":"3401_CR9","doi-asserted-by":"publisher","first-page":"1314","DOI":"10.1016\/j.jcmg.2019.10.015","volume":"13","author":"MB Musumeci","year":"2020","unstructured":"Musumeci MB, Cappelli F, Russo D, Tini G, Canepa M, Milandri A, et al. Low sensitivity of bone scintigraphy in detecting Phe64Leu mutation-related transthyretin cardiac amyloidosis. 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Amyloid Int J Exp Clin Investig Off J Int Soc Amyloidosis. 2020;27(3):174\u201383.","journal-title":"Amyloid Int J Exp Clin Investig Off J Int Soc Amyloidosis"},{"issue":"1","key":"3401_CR12","doi-asserted-by":"publisher","first-page":"1724","DOI":"10.3109\/03009734.2015.1122687","volume":"121","author":"B Pilebro","year":"2016","unstructured":"Pilebro B, Suhr OB, N\u00e4slund U, Westermark P, Lindqvist P, Sundstr\u00f6m T. 99mTc-DPD uptake reflects amyloid fibril composition in hereditary transthyretin amyloidosis. Ups J Med Sci. 2016;121(1):1724.","journal-title":"Ups J Med Sci."},{"issue":"1","key":"3401_CR13","doi-asserted-by":"publisher","first-page":"466","DOI":"10.1186\/s12872-020-01749-x","volume":"20","author":"N Martini","year":"2020","unstructured":"Martini N, Rizzo S, Sarais C, Cipriani A. Negative bone scintigraphy in wild-type transthyretin cardiac amyloidosis. BMC Cardiovasc Disord. 2020;20(1):466.","journal-title":"BMC Cardiovasc Disord"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-024-03401-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-024-03401-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-024-03401-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,15]],"date-time":"2024-10-15T14:45:54Z","timestamp":1729003554000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-024-03401-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,15]]},"references-count":13,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["3401"],"URL":"https:\/\/doi.org\/10.1186\/s13023-024-03401-9","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,10,15]]},"assertion":[{"value":"27 March 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 October 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 October 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"In line with the French legislation on observational studies of routine clinical practice, authorization by an investigational review board was neither required or sought. The patients featured in the present report stated that they did not object to the use of their anonymized personal data for research purposes.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The patients featured in the present report stated that they did not object to the use of their anonymized personal data in the present publication.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to publication"}},{"value":"T. Damy has received research grants or consultancy fees from Astra Zeneca, Alnylam, Akcea, Bridge Bio, Ionis, GSK, Prothena, Pfizer, Neurimmune.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"381"}}