Transthyretin amyloid cardiomyopathy: a paradigm for advancing precision medicine.

Abstract

Development of specific therapies addressing the underlying diseases' mechanisms constitutes the basis of precision medicine. Transthyretin cardiac amyloidosis (ATTR-CM) is an exemplar of precise therapeutic approach in the field of heart failure and cardiomyopathies. A better understanding of the underlying pathophysiology, more precise data of its epidemiology, and advances in imaging techniques that allow non-invasive diagnosis have fostered the development of new and very effective specific therapies for ATTR-CM. Therapeutic advances have revolutionized the field, transforming a rare, devastating, and untreatable disease into a more common disease with several therapeutic alternatives available. Three main types of therapies (stabilizers, suppressors, and degraders) that act at different points of the amyloidogenic cascade have been developed or are currently under investigation. In this review, the key advances in pathophysiology and epidemiology that have occurred in the last decades along with the different therapeutic alternatives available or under development for ATTR-CM are described, illustrating the role of precision medicine applied to cardiovascular disorders. Pending questions that would need to be answered in upcoming years are also reviewed.