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dc.contributor.author | Muller, Steven A | |
dc.contributor.author | Peiró-Aventin, Belén | |
dc.contributor.author | Biagioni, Giulia | |
dc.contributor.author | Tini, Giacomo | |
dc.contributor.author | Saturi, Giulia | |
dc.contributor.author | Kronberger, Christina | |
dc.contributor.author | Achten, Anouk | |
dc.contributor.author | Dobner, Stephan | |
dc.contributor.author | Te Rijdt, Wouter P | |
dc.contributor.author | Gasperetti, Alessio | |
dc.contributor.author | Te Riele, Anneline S J M | |
dc.contributor.author | Varrà, Guerino G | |
dc.contributor.author | Ponziani, Alberto | |
dc.contributor.author | Hirsch, Alexander | |
dc.contributor.author | Porcari, Aldostefano | |
dc.contributor.author | van der Meer, Manon G | |
dc.contributor.author | Zampieri, Mattia | |
dc.contributor.author | van der Harst, Pim | |
dc.contributor.author | Kammerlander, Andreas | |
dc.contributor.author | Biagini, Elena | |
dc.contributor.author | van Tintelen, J Peter | |
dc.contributor.author | Barbato, Emanuele | |
dc.contributor.author | Asselbergs, Folkert W | |
dc.contributor.author | Menale, Silvia | |
dc.contributor.author | Gräni, Christoph | |
dc.contributor.author | Merlo, Marco | |
dc.contributor.author | Michels, Michelle | |
dc.contributor.author | Knackstedt, Christian | |
dc.contributor.author | Nitsche, Christian | |
dc.contributor.author | Longhi, Simone | |
dc.contributor.author | Musumeci, Beatrice | |
dc.contributor.author | Cappelli, Francesco | |
dc.contributor.author | Garcia-Pavia, Pablo | |
dc.contributor.author | Oerlemans, Marish I F J | |
dc.date.accessioned | 2024-07-08T14:10:20Z | |
dc.date.available | 2024-07-08T14:10:20Z | |
dc.date.issued | 2024-06-17 | |
dc.identifier.citation | Eur J Heart Fail. 2024 Jun 17. | es_ES |
dc.identifier.uri | http://hdl.handle.net/20.500.12105/20211 | |
dc.description.abstract | AIMS 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. METHODS AND RESULTS We included 159 relatives (median age 55.6 [43.2-65.9] 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 ≥II) 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 (≤10 years 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 = 41 relatives; follow-up 3.1 [2.2-5.2] years) at 3-year interval was 9.4%. CONCLUSIONS Screening according to the 2021 ESC position statement performs well in daily clinical practice. Clinicians should adhere to repeating bone scintigraphy after 3 years, as progressing to ATTRv-CM without signs of ATTRv-CM on first-line diagnostic tests or symptoms is common. | es_ES |
dc.description.sponsorship | We acknowledge the support from the Netherlands Cardiovascular Research Initiative, an initiative with support of the Netherlands Heart Foundation, grant nos.: CVON 2020B005 Double Dose, and CVON 2018-30 Predict 2 (including Young Talent Program grant to S.A.M.). F.W.A. is supported by UCL Hospitals NIHR Biomedical Research Centre. A.S.J.M.t.R. is supported by the ZonMW Off Road Grant 2021 and ERC HORIZON IMPACT (#101115536). The work reported in this publication was funded by the Italian Ministry of Health, RC-2024-2789983 project. | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Wiley | es_ES |
dc.type.hasVersion | VoR | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.title | Evaluation of the 2021 ESC recommendations for family screening in hereditary transthyretin cardiac amyloidosis. | es_ES |
dc.type | journal article | es_ES |
dc.rights.license | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
dc.identifier.pubmedID | 38887861 | es_ES |
dc.identifier.doi | 10.1002/ejhf.3339 | es_ES |
dc.contributor.funder | Unión Europea. Comisión Europea. European Research Council (ERC) | es_ES |
dc.description.peerreviewed | Sí | es_ES |
dc.identifier.e-issn | 1879-0844 | es_ES |
dc.relation.publisherversion | 10.1002/ejhf.3339 | es_ES |
dc.identifier.journal | European journal of heart failure | es_ES |
dc.repisalud.orgCNIC | CNIC::Grupos de investigación::Miocardiopatías Hereditarias | es_ES |
dc.repisalud.institucion | CNIC | es_ES |
dc.relation.projectID | info:eu-repo/grantAgreement/EC/H2020/ERC/101115536 | es_ES |
dc.rights.accessRights | open access | es_ES |