CardioHub - Cardio Town Hall: Amyloidosis - Redefining Care and Expectations for Today's Patients - Earlier and Optimized Management-Redefining Care and Expectations for Today's Patients

Video Transcription

Video Summary

This HFSA Cardiotown Hall session focused on ATTR cardiac amyloidosis emphasizes the importance of early diagnosis and optimized management to improve patient outcomes. Cardiac amyloidosis, caused mainly by immunoglobulin light chains (AL) or transthyretin (ATTR) proteins, results in restrictive cardiomyopathy and systemic symptoms including neuropathy and musculoskeletal issues. Diagnosis requires heightened clinical suspicion, especially in patients with heart failure with preserved ejection fraction, increased LV wall thickness, and concomitant orthopedic manifestations like bilateral carpal tunnel or spinal stenosis.<br /><br />Diagnosis begins with monoclonal protein screening (serum and urine immunofixation electrophoresis and serum free light chains) to exclude AL amyloidosis—crucial given its aggressive course. If negative, radionuclide scintigraphy (e.g., technetium pyrophosphate scan) is used to identify ATTR cardiac involvement, though nuances in test interpretation and potential false positives necessitate expert review. Genetic testing follows to differentiate wild-type from variant ATTR.<br /><br />Management now includes FDA-approved disease-modifying therapies: TTR stabilizers (e.g., tafamidis) and RNA silencers (e.g., inotersen, vutrisiran). Choice of therapy is individualized, factoring patient comorbidities, neuropathy presence, access to treatment, and patient preference. Early intervention slows disease progression but does not reverse damage. Multidisciplinary collaboration and shared decision-making remain key to optimal care. Ongoing trials aim to refine screening, treatment sequencing, and prevention strategies.

Keywords

ATTR cardiac amyloidosis

early diagnosis

restrictive cardiomyopathy

monoclonal protein screening

radionuclide scintigraphy

TTR stabilizers

RNA silencers