Pre-symptomatic scintigraphic and genetic cascade screening in cardiac transthyretin amyloidosis.

Purpose: While early diagnosis is crucial, as new treatments can significantly slow the progression of the disease, there is growing evidence on the application of novel imaging techniques for detecting transthyretin amyloidosis (ATTR) in pre-symptomatic stages. This study aimed to evaluate the utility of pre-symptomatic scintigraphic imaging cascade screening for early detection of ATTR.

Methods: During the period from 2020 to 2024, we conducted a prospective study that enrolled 100 consecutive adults.