Advances and challenges in echocardiographic diagnosis and management of cardiac amyloidosis

Cardiac amyloidosis is an infiltrative cardiomyopathy characterized by the abnormal accumulation of amyloid proteins within the heart muscle. It is recognized as a rare yet significant cardiac disease that is often overlooked as a potential cause of heart failure and cardiac arrhythmias, particularly in older individuals with rates escalating from 8 to 17 cases per 100,000 individuals. Cardiac amyloidosis primarily manifests as two predominant subtypes: light-chain and transthyretin amyloidosis, collectively accounting for over 95% of clinical cases. Early diagnosis of these conditions is often hindered by overlapping symptoms with other cardiac pathologies, resulting in diagnostic delays and suboptimal patient outcomes. Echocardiography, a non-invasive imaging technique, has become indispensable for diagnosing cardiac amyloidosis, uncovering crucial echocardiographic signs such as thickening of the left ventricular wall, diastolic dysfunction, and a granular appearance of the myocardium. Recent advancements in echocardiography have significantly enhanced the diagnostic accuracy of cardiac amyloidosis and improved patient management. Advanced echocardiographic techniques, including strain imaging, 3D echocardiography, and contrast echocardiography, have significantly enhanced diagnostic accuracy and prognostication. Future directions in echocardiography encompass the integration of artificial intelligence, the development of novel contrast agents, and the refinement of 4D echocardiography to further optimize patient care. This study explores the pivotal role of echocardiography in both diagnosing and managing cardiac amyloidosis, delving into the disease's underlying mechanisms, distinctive imaging characteristics, the significance of regular echocardiographic assessments, and discusses the challenges associated with differentiating between various types of amyloidosis without supplemental imaging or biopsy methods.