Targeted therapies in transthyretin cardiac amyloidosis: a review focused on contemporary clinical context

Juan P. Costabel, Departamento de Cardiología, Instituto Cardiovascular de Buenos Aires, Buenos Aires, Argentina
Lucas L. Suárez, Departamento de Cardiología, Instituto Cardiovascular de Buenos Aires, Buenos Aires, Argentina
M. Cecilia Escalante-Seyffert, Clínica de Miocardiopatías, Instituto Nacional de Cardiología Ignacio Chávez, Ciudad de México, México
Juan D. López-Ponce de León, Fundación Valle del Lili, Centro de Investigaciones Clínicas, Cali, Colombia; Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia
Fabio Fernándes, Unidade Clínica de Cardiopatias Familiares, Instituto do Coração (InCor), Hospital das Clínicas, São Paulo, Brasil; Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brasil
Enrique A. Berrios-Bárcenas, Clínica de Miocardiopatías, Instituto Nacional de Cardiología Ignacio Chávez, Ciudad de México, México

Transthyretin cardiac amyloidosis is a recently recognized disease, still significantly underdiagnosed. It is characterized by infiltration of amyloid proteins resulting from the destabilization of the transthyretin protein produced in the liver. There are two predominant presentations, the hereditary form and the wild-type form, both with cardiac involvement leading to heart failure and reducing life expectancy. In recent years, multiple treatment options targeting the cause of the disease, known as disease-modifying therapies, have emerged, and the use of traditional heart failure treatments has become necessary. This review addresses traditional and disease-modifying therapies for this disease, addressing their mechanisms of action, efficacy, safety, and real-world implementation.

Keywords: Transthyretin amyloidosis. Hereditary transthyretin-related amyloidosis. Cardiomyopathies. Treatment. Time to treatment.