• cardiac amyloiosis
• diagnostic pathways
• incidence

While previously considered a rare disease, cardiac amyloidosis (CA), either associated to tranthyretin (TTR-CA) or to immunoglobulin light-chain (AL-CA) is likely underdiagnosed. However real incidence and prevalence of CA remain unknown and shared diagnostic pathways are not fully defined.
Aim: to assess incidence, diagnostic pathways and clinical characteristics of patients with CA in Tuscany and Umbria regions.
Methods: Patients with suspected CA underwent diagnostic work-up in XX Centers in Tuscany and Umbria regions within the CARRY registry and were then followed-up for 12 month for the end-points of all-cause mortality and hospitalization.
Results: 516 patients were enrolled; 448 finaly received an established diagnosis of CA. Incidence rate of CA in 2022 in Tuscany and Umbria regions was estimated at 4.64 new cases per 100000 adult population and for ATTR CA 10.64 new cases per 100000 population . Patients with CA had more often past history of carpal tunnel syndrome, spontaneous tendon ruptures, heart failure, higher levels of NT-proBNP and hs troponin T; they also showed lower left ventricular (LV) ejection fraction, higher LV mass, worse diastolic function. The main referral pathway was cardiological. Median time from clinical suspicion to diagnosis of CA was 73 days (71 days for ATTR-CA, 76 days for AL-CA). Follow-up was available in 66/448 patients. In such subset, cumulative survival free for outcomes was significantly lower in patients with CA (49 weeks(95% CI 46.7-51.3) vs 51 week (95% CI 50.2-51.8), p =0.046).
Conclusion: Incidence of CA is higher than previously reported. The introduction of shared diagnostic pathways may improve outcome of patients with ATTR- and AL-CA.