Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Clinical Trial
. 2022 Aug;24(8):1377-1386.
doi: 10.1002/ejhf.2504. Epub 2022 May 10.

Unmasking the prevalence of amyloid cardiomyopathy in the real world: results from Phase 2 of the AC-TIVE study, an Italian nationwide survey

Marco Merlo #  1 , Linda Pagura #  1 , Aldostefano Porcari  1 , Matteo Cameli  2 , Giuseppe Vergaro  3 , Beatrice Musumeci  4 , Elena Biagini  5 , Marco Canepa  6   7 , Lia Crotti  8   9 , Massimo Imazio  10   11 , Cinzia Forleo  12 , Francesco Cappelli  13   14 , Federico Perfetto  14 , Stefano Favale  12 , Gianluca Di Bella  15 , Franca Dore  16 , Francesca Girardi  16 , Daniela Tomasoni  17 , Rita Pavasini  18 , Valeria Rella  8 , Giuseppe Palmiero  19 , Martina Caiazza  19 , Maria Cristina Carella  12 , Andrea Igoren Guaricci  12 , Giovanna Branzi  8 , Angelo Giuseppe Caponetti  5 , Giulia Saturi  5 , Giovanni La Malfa  6 , Andrea Carlo Merlo  6 , Alessandro Andreis  10 , Francesco Bruno  10 , Francesca Longo  1 , Maddalena Rossi  1 , Guerino Giuseppe Varrà  1 , Riccardo Saro  1 , Luca Di Ienno  18 , Giuseppe De Carli  2 , Elisa Giacomin  2 , Chiara Arzilli  20 , Giuseppe Limongelli  19 , Camillo Autore  4 , Iacopo Olivotto  13 , Luigi Badano  8   9 , Gianfranco Parati  8   9 , Stefano Perlini  21 , Marco Metra  17 , Michele Emdin  3 , Claudio Rapezzi  18   22 , Gianfranco Sinagra  1
Affiliations
Free article
Clinical Trial

Unmasking the prevalence of amyloid cardiomyopathy in the real world: results from Phase 2 of the AC-TIVE study, an Italian nationwide survey

Marco Merlo et al. Eur J Heart Fail. 2022 Aug.
Free article

Abstract

Aim: To investigate the prevalence of amyloid cardiomyopathy (AC) and the diagnostic accuracy of echocardiographic red flags of AC among consecutive adult patients undergoing transthoracic echocardiogram for reason other than AC in 13 Italian institutions.

Methods and results: This is an Italian prospective multicentre study, involving a clinical and instrumental work-up to assess AC prevalence among patients ≥55 years old with an echocardiogram suggestive of AC (i.e. at least one echocardiographic red flag of AC in hypertrophic, non-dilated left ventricles with preserved ejection fraction). The study was registered at ClinicalTrials.gov (NCT04738266). Overall, 381 patients with an echocardiogram suggestive of AC were identified among a cohort of 5315 screened subjects, and 217 patients completed the investigations. A final diagnosis of AC was made in 62 patients with an estimated prevalence of 29% (95% confidence interval 23%-35%). Transthyretin-related AC (ATTR-AC) was diagnosed in 51 and light chain-related AC (AL-AC) in 11 patients. Either apical sparing or a combination of ≥2 other echocardiographic red flags, excluding interatrial septum thickness, provided a diagnostic accuracy >70%.

Conclusion: In a cohort of consecutive adults with echocardiographic findings suggestive of AC and preserved left ventricular ejection fraction, the prevalence of AC (either ATTR or AL) was 29%. Easily available echocardiographic red flags, when combined together, demonstrated good diagnostic accuracy.

Keywords: Amyloid cardiomyopathy; Echocardiography; Epidemiology; Light chain amyloidosis; Red flags; Transthyretin amyloidosis.

PubMed Disclaimer

References

    1. Maurer MS, Bokhari S, Damy T, Dorbala S, Drachman BM, Fontana M, et al. Expert consensus recommendations for the suspicion and diagnosis of transthyretin cardiac amyloidosis. Circ Heart Failure. 2019;12:e006075.
    1. Garcia-Pavia P, Rapezzi C, Adler Y, Arad M, Basso C, Brucato A, et al. Diagnosis and treatment of cardiac amyloidosis: a position statement of the ESC Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2021;42:1554-68.
    1. Porcari A, Bussani R, Merlo M, Varrà GG, Pagura L, Rozze D, et al. Incidence and characterization of concealed cardiac amyloidosis among unselected elderly patients undergoing post-mortem examination. Front Cardiovasc Med. 2021;23:749523.
    1. Porcari A, Merlo M, Rapezzi C, Sinagra G. Transthyretin amyloid cardiomyopathy: an uncharted territory awaiting discovery. Eur J Intern Med. 2020;82:7-15.
    1. Gilstrap LG, Dominici F, Wang Y, El-Sady MS, Singh A, Di Carli MF, et al. Epidemiology of cardiac amyloidosis-associated heart failure hospitalizations among fee-for-service Medicare beneficiaries in the United States. Circ Heart Failure. 2019;12:e005407.

Publication types

Associated data