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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

Diagnostic Trends and Geographic Health Care Disparities Among Patients With Transthyretin Amyloid Cardiomyopathy

Joshua D Mitchell1, Kevin M Alexander2, Hanh Dung Dao3

  • 1Amyloid Center of Excellence, Cardiovascular Division Washington University School of Medicine St. Louis MO USA.

Journal of the American Heart Association
|June 9, 2026
PubMed

Insights

The prevalence of transthyretin amyloid cardiomyopathy (ATTR-CM) has significantly increased, with higher rates in Black patients and the Northeast. Geographic disparities in diagnosis persist despite increased awareness.

Area of Science:

  • Cardiology
  • Cardiovascular Diseases
  • Amyloidosis

Background:

  • Transthyretin amyloid cardiomyopathy (ATTR-CM) is a rare, life-threatening restrictive cardiomyopathy.
  • Access to specialized care may influence ATTR-CM diagnosis.
  • Geographic distribution of resources impacts patient outcomes.

Purpose of the Study:

  • To analyze diagnostic trends and geographic disparities in ATTR-CM.
  • To assess the distribution of cardiology providers and amyloid centers.
  • To identify factors influencing ATTR-CM diagnosis across the US.

Main Methods:

  • Cross-sectional geospatial analysis of healthcare resources.
  • Retrospective cohort analysis of ATTR-CM patients (July 2016-June 2024).
  • Utilized the Komodo Healthcare Map for data.

Main Results:

  • ATTR-CM prevalence increased 4-fold; highest in Black patients and the Northeast.
  • Mean distance to cardiology: 4.3 miles; to amyloid center: 48.5 miles.
  • Significant geographic disparities noted, especially in the Midwest.

Conclusions:

  • ATTR-CM prevalence has risen substantially with racial and geographic disparities.
  • Strategies are needed to address regional inequities in ATTR-CM diagnosis and care.
  • Further research into access to care is warranted.
Abstract

Keywords:
diagnosisdiagnostic disparitiesdiagnostic trendsprevalencetransthyretin amyloid cardiomyopathy

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