Unmasking the Prevalence of Amyloid Cardiomyopathy in the Real World: Results from Phase 2 of AC-TIVE Study, an Italian Nationwide Survey

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 multicentric study, involving a clinical and instrumental work-up to assess AC prevalence among patients ≥ 55 years old with an "AC suggestive" echocardiogram (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). 381 patients with an "AC suggestive" echocardiogram were identified among a cohort of 5315 screened subjects. 217 patients completed the investigations. A final diagnosis of AC was made in 62 patients with an estimated prevalence of 29% (95% CI: 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 LVEF, the prevalence of AC (either ATTR or AL) was 29%. Easily available echocardiographic red flags, when combined together, demonstrated good diagnostic accuracy.