Please use this identifier to cite or link to this item:http://hdl.handle.net/20.500.12105/20211
Title
Evaluation of the 2021 ESC recommendations for family screening in hereditary transthyretin cardiac amyloidosis.
Author(s)
Muller, Steven A | Peiró-Aventin, Belén | Biagioni, Giulia | Tini, Giacomo | Saturi, Giulia | Kronberger, Christina | Achten, Anouk | Dobner, Stephan | Te Rijdt, Wouter P | Gasperetti, Alessio | Te Riele, Anneline S J M | Varrà, Guerino G | Ponziani, Alberto | Hirsch, Alexander | Porcari, Aldostefano | van der Meer, Manon G | Zampieri, Mattia | van der Harst, Pim | Kammerlander, Andreas | Biagini, Elena | van Tintelen, J Peter | Barbato, Emanuele | Asselbergs, Folkert W | Menale, Silvia | Gräni, Christoph | Merlo, Marco | Michels, Michelle | Knackstedt, Christian | Nitsche, Christian | Longhi, Simone | Musumeci, Beatrice | Cappelli, Francesco | Garcia-Pavia, Pablo CNIC | Oerlemans, Marish I F J
Date issued
2024-06-17
Citation
Eur J Heart Fail. 2024 Jun 17.
Language
Inglés
Document type
journal article
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.
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