Systemic Manifestations and Mortality Risk in Transthyretin V142I Variant Carriers: A Million Veteran Program Analysis | JACC: CardioOncology

This study analyzes over 2,600 transthyretin V142I variant carriers in the Million Veteran Program and finds significantly elevated risks of heart failure, cardiomyopathy, arrhythmias, neuropathy, and musculoskeletal complications compared with matched controls. Despite these risks, amyloidosis was rarely diagnosed clinically, underscoring major gaps in recognition and the need for earlier identification and multidisciplinary intervention.