DOI: 10.1161/jaha.125.048942 ISSN: 2047-9980

Delays From Clinical Manifestations to Diagnosis of Transthyretin Amyloid Cardiomyopathy: A National Retrospective Cohort Study

Joshua D. Mitchell, Margarita Udall, Liana Hennum, Hanh Dung Dao, Bret Zeldow, Elizabeth Nagelhout, Kevin M. Alexander, Richard K. Cheng
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Background

Transthyretin amyloid cardiomyopathy (ATTR‐CM) is a progressive, life‐threatening condition. Timely and accurate diagnosis remains a challenge. We assessed time from first recorded clinical manifestation to ATTR‐CM diagnosis in the United States and characterized manifestations associated with diagnostic delays.

Methods

Retrospective analysis of US claims data (Komodo Healthcare Map, July 1, 2016–June 30, 2024). Patients were required to have ≥3 years of continuous enrollment before diagnosis.

Results

Among 7509 patients, mean age 75.9 years, 63.2% male, 54.5% White, and 28.6% Black. Patients had a median of 8 manifestations before diagnosis; median observed time from first recorded manifestation to diagnosis was 5.2 years, shorter for variant versus wild‐type ATTR‐CM (4.4 versus 5.2 years). Within 3 years before diagnosis, patients had a mean of 12.04 (95% CI, 11.75–12.35) primary care physician visits and 14.45 (95% CI, 14.10–14.80) specialists of interest visits, most commonly with cardiologists and ophthalmologists. In adjusted analyses, variant ATTR‐CM was associated with shorter time to diagnosis (β, −0.41 years [95% CI, −0.56 to −0.26]), whereas comorbidities, including hypertension (β, 0.46 years [95% CI, 0.27–0.64]), were associated with longer delays.

Conclusions

The diagnostic trajectory for ATTR‐CM can be prolonged and challenging, leading to more advanced disease at diagnosis and increased burden. Raising awareness may provide an opportunity for earlier diagnosis.

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