Background: After the approval of several pharmaceutics against cardiac amyloidosis (CA) diagnostic and therapeutic pathways are currently being refined. CA is considered a rare disease leading to a severe heart failure once cardiac involvement is diagnosed. The two major causes of CA, either due to misfolded Transthyretin- receptors (ATTR) or light- chain diseases (AL). To raise awareness and understanding for this disease, we urgently need more epidemiologic data.

Aim: We aimed to investigate prevalence rates for CA among an extensive cohort of patients undergoing echocardiography in an echo lab of a large university clinic serving all medical specialities in central Germany over a period of ten years.

Methods: A retro- and prospective database based on suspicious morphologic findings for CA in echocardiography for all performed echocardiographic examinations over a 10-year period (2013-2022) was established. During this time (including the year 2021), 41,375 patients underwent at least one echo exam for various indications. Patients were mixed-cohort and consisted of non-cardiac and cardiac patients with acute and chronic illnesses as well as screening exams (e.g., syncope evaluation, before major surgery or chemotherapy). Patients with suspicious echocardiography were analysed whether they underwent further diagnostic and diagnosis of CA due to AL or ATTR was confirmed or if it remained as an unproven suspicion (Figure 1). Various laboratory (including cardiac biomarkers) and clinical parameters, ECG data and comorbidities were determined.

Results: Analysis of clinical characteristics, comorbidities, biomarkers and echo parameters (data on file) revealed an advanced CA stage in our cohort corresponding to Gilmore stage 2 and 3. The prevalence of advanced cardiac amyloidosis among our all-comers echocardiography population due to suspicious echocardiographic findings was at least 2.5 cases per 1,000 performed echocardiographies. However, the minimal prevalence rate in octagenerians and older undergoing echocardiography was 7 per 1,000 in this cohort. Almost all of those cases in the elderly were ATTR-CA cases (Tab. 1). A substantial dark figure should still be assumed.  We saw a steady increase of suspicious and verified CA cases over the last decade (Fig. 2) resulting in more than double of the cases in 2021 compared to 2013. Of note, diagnostic work up for these advanced CA cases is poor but also increasing over the past decade. In 2013 only 40% of the cases underwent further diagnostics, whereas in 2021 it increased to 63%.

Conclusion: CA, especially in older patients, is probably more frequent than expected. Due to our data, classification of CA as a rare disease is debatable. Diagnostic pathways, especially for early (echocardiographic) signs of CA needs to be refined.