Journal Article

Investigating Cardiac Amyloidosis: A Primer for Clinicians

Shah, Nishant, Bashir, Zubair, Hulten, Edward, Bukhari, Syed, Patel, Yash

2025

Overview

Cardiac amyloidosis (CA) is an infiltrative disease that results from the deposition of amyloid fibrils in the myocardium, resulting in restrictive cardiomyopathy. The amyloid fibrils are predominantly derived from two parent proteins, immunoglobulin light chain (AL) and transthyretin (ATTR), and ATTR is further classified into hereditary (ATTRv) and wild-type (ATTRwt) based on the presence or absence, respectively, of a mutation in the transthyretin gene. Once thought to be a rare entity, CA is increasingly recognized as a significant cause of heart failure due to improved clinical awareness and better diagnostic imaging. Advances in multimodality imaging, including echocardiography, cardiac magnetic resonance imaging, and CA radionuclide imaging, have markedly enhanced the non-invasive detection of this condition. While ATTR can often be diagnosed with CA radionuclide imaging in conjunction with the absence of paraproteinemia, the diagnosis of AL typically requires histological confirmation. This review, with the help of a case presentation, highlights the critical role of noninvasive imaging modalities in early detection and quantification of disease burden, which are crucial for timely treatment and improvement in patient outcomes.

• Publisher: Rhode Island Medical Society
• Subject: Amyloidosis