Race, Genetics, and Social Determinants of Health in Transthyretin Cardiac Amyloidosis: A Literature Review and Call to Action.

Abstract

Purpose of review: Recent evidence suggests that transthyretin cardiac amyloidosis (ATTR-CM) is significantly more common than once believed, yet it remains frequently under- and mis-diagnosed. With effective treatments now available, early and accurate diagnosis has become critical for better patient outcomes. Understanding the interplay between genetics, race, and social determinants of health (SDOH) in influencing both ATTR-CM diagnosis and management is essential for bridging the current gaps.

Recent findings: Our analysis reveals multiple barriers affecting ATTR-CM care. Specifically, we discuss how clinician awareness, regional differences in clinical practice, and limited access to health care and specialty centers contribute to diagnostic delays. Additionally, we identify several management obstacles, such as inadequate diversity in clinical trials, high cost of available treatments, and limited ancillary resources. We examine these challenges in detail and provide practical solutions to address them. While disparities in heart failure outcomes have been well-documented, those specific to ATTR-CM remain underrepresented in the literature. This review establishes a structured approach to understanding how biological, structural and SDOH-related disparities impact ATTR-CM diagnosis and management while offering concrete strategies to overcome these challenges. We emphasize the need for enhanced SDOH identification and advocate for coordinated, multidisciplinary efforts to improve ATTR-CM patient outcomes.