Tissue Screening and Diagnosis of Transthyretin Amyloid Cardiomyopathy

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Abstract
Given the multi-organ involvement of transthyretin (ATTR) amyloidosis, associated symptoms such as peripheral neuropathy, biceps tendon rupture, lumbar stenosis, and bilateral carpal tunnel syndrome can develop concurrently with cardiac disease or even precede the cardiac diagnosis by up to a decade. Screening of tissue obtained opportunistically during an otherwise indicated procedure or diagnostic test has shown promise for the early identification of nascent cardiac amyloidosis (CA) in patients who might otherwise remain undiagnosed for years. This review aims to: (1) briefly summarize the cardiac and non-cardiac manifestations of transthyretin cardiomyopathy (ATTR-CM) that may raise clinical suspicion for the disease; (2) discuss tissue-based screening within contemporary ATTR-CM diagnostic pathways; (3) describe the diagnostic yield and management challenges of tissue screening, with a focus on early detection; (4) examine the treatment and surveillance implications of tissue screening in both symptomatic and asymptomatic individuals. Multidisciplinary collaboration (e.g., partnerships between hand surgery centers and amyloid centers) and criteria-based screening of specimens obtained during noncardiac and cardiac surgery may offer an effective strategy for identifying patients earlier in the associated disease course. However, given the variable diagnostic yield, the significant anxiety associated with comprehensive evaluation for ATTR-CM, and the potentially high cost of treating CA with one of the three therapies approved by the Food and Drug Administration (FDA), further refinement of screening criteria and additional investigation into the impact of early treatment on disease trajectory and outcomes are needed.

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