Scintigraphic and Echocardiographic Study of Patients with Pathogenic or Probably Pathogenic Variants of the TTR Gene without Overt Cardiac Involvement.
Tonnison de Oliveira SilvaEduardo Sahade DarzéMarcela Machado CostaLuiz José JuniorAntonio A B XimenesFábio FernandesMário de Seixas RochaMarcia Maria Noya RabeloLuiz Eduardo Fonteles RittPublished in: Arquivos brasileiros de cardiologia (2024)
Subclinical cardiac involvement was common in a sample of TTR mutation carriers without cardiac involvement. Reduced left ventricular GLS was the most frequent finding. There was no association between the presence of amyloid polyneuropathy and subclinical cardiac involvement. Type of mutation was not associated with early cardiac involvement. In this sample, the use of tafamidis 20 mg/day was not associated with a lower prevalence of subclinical cardiac involvement.