# Multimodality Imaging Leading the Way to a Prompt Diagnosis and Management of Transthyretin Amyloidosis

## TL;DR

Multimodal imaging helps diagnose and manage transthyretin amyloidosis by detecting cardiac amyloid deposits and guiding treatment adjustments.

## Contribution

The paper highlights how multimodal imaging can lead to prompt diagnosis and individualized treatment of transthyretin amyloidosis.

## Key findings

- Multimodal imaging detected cardiac amyloid deposition and confirmed transthyretin amyloidosis with mixed phenotype.
- Treatment with tafamidis improved neurological outcomes, while intensified therapy stabilized cardiac function after deterioration.
- Multimodal imaging aided in monitoring disease progression and guiding therapeutic decisions.

## Abstract

Background/Objectives: A 43-year-old male presented with neurological symptoms and asymptomatic cardiac dysfunction, left ventricular hypertrophy, and impaired global longitudinal strain with apical sparing, associated with elevated NT-proBNP. Methods: Multimodality imaging (bone scintigraphy and cardiac magnetic resonance) revealed cardiac amyloid deposition. Genetic testing confirmed variant transthyretin amyloidosis (ATTR) with mixed phenotype. Results: Treatment with tafamidis 20 mg for stage I polyneuropathy, available at that moment, was initiated with good neurological outcome. Three years later, cardiac function deteriorated, following a moderate COVID-19 infection, with heart failure symptoms and reduced ventricular and atrial functions. For progressive ATTR cardiomyopathy, we intensified therapy to tafamidis free acid 61 mg, associated with SGLT2 inhibitor, spironolactone, and furosemide with subsequent improvements of symptoms and stabilization of imaging findings. Conclusions: This case emphasizes the importance of multimodal imaging in early detection, monitoring, and guiding individualized management in ATTR cardiomyopathy.