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Updated: Mar 29, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Screening Strategies for Identification of Transthyretin Amyloid Cardiomyopathy
Anthony E Peters1, Faraz S Ahmad2, Trejeeve Martyn3
1Department of Cardiovascular Medicine, School of Medicine, Wake Forest University, Winston-Salem, North Carolina, USA.
None:
Transthyretin amyloid cardiomyopathy (ATTR-CM) remains underdiagnosed relative to population estimates in at-risk populations. Efforts have identified clinical features that identify risk for the diagnosis of ATTR-CM and have developed associated risk prediction models to identify risk of the presence of clinical ATTR-CM disease. Prospective validation and broad implementation of these data across health care systems have been limited. In this context, there is an unmet need to synthesize existing risk modeling published reports and discuss implementation approaches to identifying ATTR-CM. In this review, we summarize results from risk prediction efforts to date, identify remaining gaps in evidence, and describe potential opportunistic health system strategies to integrate systematic ATTR-CM risk prediction and screening.
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