2026-04-25T10:17:52Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/202112024-09-27T08:58:31Zcom_20.500.12105_19604com_20.500.12105_2051col_20.500.12105_19605

00925njm 22002777a 4500 dc Muller, Steven A author Peiró-Aventin, Belén author Biagioni, Giulia author Tini, Giacomo author Saturi, Giulia author Kronberger, Christina author Achten, Anouk author Dobner, Stephan author Te Rijdt, Wouter P author Gasperetti, Alessio author Te Riele, Anneline S J M author Varrà, Guerino G author Ponziani, Alberto author Hirsch, Alexander author Porcari, Aldostefano author van der Meer, Manon G author Zampieri, Mattia author van der Harst, Pim author Kammerlander, Andreas author Biagini, Elena author van Tintelen, J Peter author Barbato, Emanuele author Asselbergs, Folkert W author Menale, Silvia author Gräni, Christoph author Merlo, Marco author Michels, Michelle author Knackstedt, Christian author Nitsche, Christian author Longhi, Simone author Musumeci, Beatrice author Cappelli, Francesco author Garcia-Pavia, Pablo author Oerlemans, Marish I F J author 2024-06-17 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. Eur J Heart Fail. 2024 Jun 17. http://hdl.handle.net/20.500.12105/20211 38887861 10.1002/ejhf.3339 1879-0844 European journal of heart failure Evaluation of the 2021 ESC recommendations for family screening in hereditary transthyretin cardiac amyloidosis.