A General Overview of Transthyretin Cardiac Amyloidosis and Summary of Expert Opinions on Pre-Symptomatic Testing and Management of Asymptomatic Patients with a Focus on Transthyretin V122I

Transthyretin cardiac amyloidosis (TTR-CA) is a pathological condition characterized by the accumulation of misfolded transthyretin (TTR) protein in the heart, leading to restrictive cardiomyopathy. TTR-CA has gained increasing recognition in recent years due to its significant impact on morbidity and mortality. It is typically diagnosed when symptoms of heart failure appear. However, with advancements in non-invasive imaging, early and precise diagnosis of TTR-CA is now possible, enabling clinicians to take advantage of current therapeutic interventions that are more effective when initiated at an earlier stage of the disease. Moreover, genetic testing can now assist clinicians in identifying asymptomatic individuals who are at risk of developing the disease before clinical features manifest. In this review, we provide a general overview of TTR-CA and summarize expert opinions on pre-symptomatic testing and the management of asymptomatic patients, with a particular focus on the V122I mutation. This article aims to provide clinicians with a better understanding of TTR-CA and the current best practices for managing asymptomatic patients with this genetic predisposition.