Conflicting Clues in Severe LV Hypertrophy: An Unusual Presentation of ATTR Amyloidosis

Introduction

In recent decades, major advances have reshaped the clinical and epidemiological understanding of transthyretin (TTR) cardiac amyloidosis (ATTR). Progress in cardiovascular imaging has enabled earlier and more accurate identification of the disease. In particular, bone scintigraphy with ⁹⁹mTc-labeled tracers has markedly simplified the non-invasive diagnosis of ATTR cardiomyopathy, substantially reducing the need for endomyocardial biopsy in most cases.^, Nevertheless, diagnostic challenges may arise when clinical, genetic, and imaging findings are discordant. We report a case of biopsy-proven hereditary ATTR (ATTRv) cardiomyopathy with negative bone scintigraphy, illustrating an important diagnostic pitfall within the contemporary diagnostic algorithm.

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