{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,11]],"date-time":"2026-11-11T02:05:24Z","timestamp":1794362724557,"version":"4.9.0"},"reference-count":31,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2025,12,5]],"date-time":"2025-12-05T00:00:00Z","timestamp":1764892800000},"content-version":"vor","delay-in-days":536,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2024,6,17]],"date-time":"2024-06-17T00:00:00Z","timestamp":1718582400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Netherlands Heart Foundation","award":["CVON 2020B005 Double Dose"],"award-info":[{"award-number":["CVON 2020B005 Double Dose"]}]},{"name":"Netherlands Heart Foundation","award":["CVON 2018-30 Predict 2"],"award-info":[{"award-number":["CVON 2018-30 Predict 2"]}]},{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"publisher","award":["RC-2024-2789983"],"award-info":[{"award-number":["RC-2024-2789983"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001826","name":"ZonMw","doi-asserted-by":"publisher","award":["Offroad Grant 2021"],"award-info":[{"award-number":["Offroad Grant 2021"]}],"id":[{"id":"10.13039\/501100001826","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010663","name":"European Research Council","doi-asserted-by":"publisher","award":["#101115536"],"award-info":[{"award-number":["#101115536"]}],"id":[{"id":"10.13039\/100010663","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["RC\u20102024\u20102789983"],"award-info":[{"award-number":["RC\u20102024\u20102789983"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001826","name":"ZonMw","doi-asserted-by":"publisher","award":["Offroad Grant 2021"],"award-info":[{"award-number":["Offroad Grant 2021"]}],"id":[{"id":"10.13039\/501100001826","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>The 2021 European Society of Cardiology (ESC) screening recommendations for individuals carrying a pathogenic transthyretin amyloidosis variant (ATTRv) are based on expert opinion. We aimed to (i) determine the penetrance of ATTRv cardiomyopathy (ATTRv-CM) at baseline; (ii) examine the value of serial evaluation; and (iii) establish the yield of first-line diagnostic tests (i.e. electrocardiogram, echocardiogram, and laboratory tests) as per 2021 ESC position statement.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and results<\/jats:title>\n                    <jats:p>We included 159 relatives (median age 55.6 [43.2\u201365.9] years, 52% male) at risk for ATTRv-CM from 10 centres. The primary endpoint, ATTRv-CM diagnosis, was defined as the presence of (i) cardiac tracer uptake in bone scintigraphy; or (ii) transthyretin-positive cardiac biopsy. The secondary endpoint was a composite of heart failure (New York Heart Association class \u2265II) and pacemaker-requiring conduction disorders. At baseline, 40\/159 (25%) relatives were diagnosed with ATTRv-CM. Of those, 20 (50%) met the secondary endpoint. Indication to screen (\u226410\u2009years prior to predicted disease onset and absence of extracardiac amyloidosis) had an excellent negative predictive value (97%). Other pre-screening predictors for ATTRv-CM were infrequently identified variants and male sex. Importantly, 13% of relatives with ATTRv-CM did not show any signs of cardiac involvement on first-line diagnostic tests. The yield of serial evaluation (n\u2009=\u200941 relatives; follow-up 3.1 [2.2\u20135.2] years) at 3-year interval was 9.4%.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Screening according to the 2021 ESC position statement performs well in daily clinical practice. Clinicians should adhere to repeating bone scintigraphy after 3\u2009years, as progressing to ATTRv-CM without signs of ATTRv-CM on first-line diagnostic tests or symptoms is common.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ejhf.3339","type":"journal-article","created":{"date-parts":[[2024,6,18]],"date-time":"2024-06-18T03:05:30Z","timestamp":1718679930000},"page":"2025-2034","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["Evaluation of the 2021 ESC Recommendations for Family Screening in Hereditary Transthyretin Cardiac Amyloidosis"],"prefix":"10.1093","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2674-8709","authenticated-orcid":false,"given":"Steven A.","family":"Muller","sequence":"first","affiliation":[{"name":"Department of Cardiology, University Medical Center Utrecht , Utrecht ,","place":["The Netherlands"]},{"name":"Netherlands Heart Institute , Utrecht ,","place":["The Netherlands"]},{"name":"Member of the European Reference Network for rare, low prevalence and complex diseases of the heart (ERN GUARD-Heart)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bel\u00e9n","family":"Peir\u00f3-Aventin","sequence":"additional","affiliation":[{"name":"Member of the European Reference Network for rare, low prevalence and complex diseases of the heart (ERN GUARD-Heart)"},{"name":"Department of Cardiology, Hospital Universitario Puerta de Hierro Majadahonda, IDIPHISA, CIBERCV , Madrid ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Biagioni","sequence":"additional","affiliation":[{"name":"Tuscan Regional Amyloid Centre, Careggi University Hospital , Florence ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giacomo","family":"Tini","sequence":"additional","affiliation":[{"name":"Cardiology, Department of Clinical and Molecular Medicine, Sapienza University of Rome , Rome ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Saturi","sequence":"additional","affiliation":[{"name":"Member of the European Reference Network for rare, low prevalence and complex diseases of the heart (ERN GUARD-Heart)"},{"name":"Cardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna , Bologna ,","place":["Italy"]},{"name":"Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna , Bologna ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Kronberger","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Department of Internal Medicine II, Medical University of Vienna , Vienna 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