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 http://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.

Background Clinicians need to identify patients with amyloid cardiomyopathy (AC) at an early stage, due to the availability of disease–modifying therapies. Some echocardiographic findings may rise the suspicion of AC, also in patients with mild or no symptoms, addressing second level diagnostic tests. Aim To investigate the prevalence of AC in consecutive patients ≥55 years undergoing clinically indicated, routine transthoracic echocardiogram in Italy and presenting echocardiographic signs suggestive of AC. Methods This is a prospective multicentric study conducted in Italy. It comprises two phases: 1) a recording phase consisting in a national survey on prevalence of possible echocardiographic red flags of AC in consecutive unselected patients ≥55 years undergoing routine echocardiogram (previously published) and 2) an AC diagnostic phase involving a diagnostic work–up for AC to investigate AC prevalence among patients with at least one echocardiographic red flag (herein presented). Patients that in Phase 1 presented an “AC suggestive” echocardiogram (i.e., at least one red flag of AC in hypertrophic, non–dilated left ventricles with preserved ejection fraction) underwent clinical evaluation, blood and urine tests and scintigraphy with bone tracer. Diagnosis of transthyretin related–AC (ATTR–AC) was made in presence of grade 2–3 Perugini uptake at scintigraphy and absence of monoclonal protein. The study was registered at ClinicalTrials.gov (#NCT04738266). Results Of the 5315 screened echocardiograms, 381 exams (7.2%) were classified as “AC suggestive” and proceeded to Phase 2. 217 patients completed Phase 2 investigations. Main reasons for the 164 non–entering patients into Phase 2 were death (n = 49) and refusal to participate (n = 66). A final diagnosis of AC was made in 62 patients with an estimated prevalence of 28,6% (95% CI: 22,5%–34,7%). ATTR–AC was diagnosed in 51 and AL–AC in 11 patients, ascertaining a prevalence of 23,5% (95% CI: 17,8%–29,2%) and 5,1% (95% CI: 2,2%–8,0%), respectively. Conclusion Among a cohort of consecutive unselected patients ≥55 years with echocardiographic findings suggestive of AC, the prevalence of AC ranged from 23% up to 35%. Although ATTR–AC was predominant, AL–AC was diagnosed in a significant number of cases. Echocardiography has a fundamental role in screening patients, raising the suspicion of disease and orienting diagnostic work–up for AC.