# Living with Transthyretin amyloid cardiomyopathy from a patient perspective

## TL;DR

This study explores how patients and at-risk family members experience living with transthyretin amyloid cardiomyopathy, highlighting challenges like diagnostic delays and care disparities.

## Contribution

The study provides new qualitative insights into the patient journey and systemic barriers in ATTR-CM care.

## Key findings

- Diagnostic delays were primarily due to non-specialist provider knowledge gaps and slow referrals.
- Patients and at-risk individuals showed good disease knowledge but faced frustrations in the healthcare system.
- Disparities in care were noted based on geography, race, and socioeconomic status.

## Abstract

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.

The online version contains supplementary material available at 10.1186/s12872-025-05282-7.