https://doi.org/10.1007/s00392-025-02625-4
1Universitätsklinikum Essen Klinik für Kardiologie und Angiologie Essen, Deutschland; 2Universitätsklinik Essen Klinik für Hämatologie und Stammzelltransplantation Essen, Deutschland
Introduction: Cardiac amyloidosis (CA), particularly transthyretin amyloid cardiomyopathy (ATTR-CM), is a serious condition that leads to progressive cardiac dysfunction and heart failure due to the accumulation of amyloid fibrils in the heart. Diagnosis involves advanced imaging, biopsy, and genetic testing, with timely initiation of transthyretin stabiliser therapy, such as tafamidis, being critical to slow disease progression. However, diagnostic delays remain a significant challenge. This study aims to evaluate the time to diagnosis and therapy initiation in patients with ATTR-CM.
Methods: In this retrospective study we screened all patients between January 2018 to December 2023 at the West German Amyloidosis Center, University Hospital Essen, for ATTR-CM receiving transthyretin stabiliser therapy. We compared diagnostic and treatment timelines over two periods: 2018–2020 and 2021–2023. The time from initial suspicion of heart disease to confirmed ATTR-CM diagnosis and the time to the first prescription of transthyretin stabiliser therapy were analyzed.
Results: We found 194 patients that matched inclusion criteria. Wild-type ATTR-CM (wtATTR) was the predominant subtype (96.8%), median patient age was 80 years; 87% were male, and 93.9% were in NYHA Class II or higher. The overall median time from suspicion to diagnosis was 361 (103–944) days. Diagnostic delays showed significant improvement, with a reduction from 398 days in 2018–2020 to 277 days in 2021–2023 (p < 0.001). Initial indications of CA often presented as nonspecific symptoms such as unclear dyspnoea (76% n=117), abnormal echocardiography (15.6% n=24), or, in rare cases, incidental findings (8.4% n=13). Similarly, the median time from diagnosis to transthyretin stabiliser therapy initiation decreased from 111 days to 57 days (p < 0.001) over the same periods.
Conclusion: Despite improvements in diagnostic timelines and faster initiation of transthyretin stabiliser therapy, substantial delays persist in the diagnosis and treatment of ATTR-CM. These findings highlight the ongoing need for increased awareness, improved diagnostic workflows, and the establishment of specialized centres and networks to enhance early diagnosis and optimise patient outcomes.