Transthyretin Amyloid Cardiomyopathy - Early Diagnosis is the Key for Better Outcomes

Abstract

Transthyretin amyloid cardiomyopathy (ATTR-CM) is rare and often diagnosed late. The incidence increases with advancing age, as ATTR tetramers become prone to misfolding and has been categorized as wild type and those due to gene mutations constitute hereditary type. Diagnostic work up should include serum and urinary electrophoresis and immunofixation studies to rule out monoclonal gammapathies. With the introduction of Technitium pyrophosphate scintigraphy, early diagnosis became possible without the need for endomyocardial biopsy. It has a diagnostic sensitivity of 99% and specificity of 86%. Tafamidis, ATTR stabilizer has been approved for the treatment of ATTR-CM which prevents further deposition but does not reverse the process. The benefits are gratifying when therapy is initiated. Functional improvement was observed in 6 months and reduction in mortality in 2 years. This review impresses upon the utility of Technitium pyro phosphate scintigraphy for the early diagnosis and highlights the early initiation of therapy for better outcomes.

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