Evaluation of the 2021 ESC recommendations for family screening in hereditary transthyretin cardiac amyloidosis.

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; ... (2024). Evaluation of the 2021 ESC recommendations for family screening in hereditary transthyretin cardiac amyloidosis. (In Press). European journal of heart failure Wiley 10.1002/ejhf.3339

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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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