Living with Transthyretin amyloid cardiomyopathy from a patient perspective

Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive condition for which disease-modifying therapies are increasingly available. However, limited research has explored the patient experience with ATTR-CM and its impact on quality of life.

In this single-center qualitative study, we conducted semi-structured interviews with ten participants (either with ATTR-CM or at-risk family members). At-risk family members were defined as asymptomatic individuals with a clinically actionable TTR variant that were identified through cascade genetic testing. Interviews were recorded, transcribed, and analyzed using a hybrid deductive and inductive approach. Two independent experts assessed participants' knowledge of ATTR-CM.

Four exploratory themes emerged regarding the ATTR-CM patient journey. Participants demonstrated moderate to excellent knowledge of disease and an appropriate level of confidence. Diagnostic delays were a major source of frustration and were largely attributed to limited knowledge among non-specialist providers. While these providers often recognized that something was wrong, they struggled with appropriate diagnostic work-up and timely specialist referrals. Patients also noted disparities in ATTR-CM care based on geography, race, and socioeconomic status. Reactions to support groups were mixed, with concerns about re-traumatization being most prominent.

This qualitative study explores aspects of the ATTR-CM patient experience not captured through conventional clinical pathways. Diagnostic delays appeared to be driven by non-specialist provider knowledge gaps and systemic disparities in access to specialized care. These preliminary insights may inform the design of multidisciplinary care models that better reflect patient needs and priorities.