Key result
Qualitative study identifies five major clinical and system barriers delaying ATTR-CM diagnosis.
Why the study?
Transthyretin amyloidosis cardiomyopathy is a progressive, underdiagnosed cause of heart failure in Japan with persistent diagnostic delays and variability despite updated guidelines and advances.
This exploratory qualitative study identifies key clinician-perceived systemic and educational barriers to optimal ATTR-CM diagnosis in Japan, highlighting the need for improved cross-specialty communication and expanded access to non-invasive diagnostic tests.
Barriers may limit noninvasive ATTR-CM diagnosis benefits in Japan; hypothesis-generating for targeted pathway interventions.
Background: Transthyretin amyloidosis cardiomyopathy (ATTR-CM) is a progressive, underdiagnosed cause of heart failure, particularly among older adults. Despite updated Japanese Circulation Society (JCS) guidelines and advances in imaging and therapies, diagnostic delays and variability persist. Understanding real-world barriers is essential for improving patient outcomes. Methods and Results: A mixed-methods approach was used to develop an evidenced care pathway for ATTR-CM in Japan. A literature review of guidelines and epidemiological data informed a draft pathway. Semistructured interviews with 5 cardiologists from JCS-certified and regional hospitals explored perceived deviations from guidelines and barriers to care. Thematic analysis highlighted 5 perceived challenges: variability in physician awareness, particularly outside heart failure subspecialties; the influence of symptom type and entry point on diagnostic delay; fragmented referral pathways; low patient awareness and disengagement due to complex processes; and limited access to and interpretation of diagnostic tests. Conclusions: Removal of the tissue biopsy requirement for diagnosis and treatment prescription is an important step towards less invasive care and broader treatment access. However, challenges remain in ensuring that non-invasive diagnostic methods are widely available and correctly interpreted. The exploratory findings reported here suggest that addressing awareness gaps, referral fragmentation, and variations in diagnostic expertise may help realize the benefits of non-biopsy diagnosis in Japan.
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Endo et al. (2026) studied Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM) (n=5). ATTR-CM diagnostic and care pathway was evaluated on Perceived barriers and bottlenecks to optimal ATTR-CM care. Qualitative interviews with specialist cardiologists identified five key barriers to ATTR-CM diagnosis in Japan: variable cross-specialty awareness, symptom-driven diagnostic delays, fragmented referrals, patient disengagement, and limited access to diagnostic imaging interpretation.
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