Cardiac Amyloidosis

Area of Science:

• Biochemistry
• Pathology
• Cardiology

Background:

• Amyloid deposits are protein aggregates characterized by specific staining properties (eosinophilic, Congo red positive with green birefringence) and fibrillar ultrastructure.
• Clinical manifestations of amyloidosis are determined by the underlying protein subunit, with immunoglobulin light chain (AL) and transthyretin (TTR) being the most common in cardiac amyloidosis.

Purpose of the Study:

• To highlight the diagnostic challenges and knowledge gaps in identifying cardiac amyloidosis in clinical practice.
• To emphasize the prevalence of cardiac involvement in systemic amyloidosis and the low rate of diagnosis by cardiologists.

Main Methods:

• Review of established diagnostic criteria for amyloid deposits using light and electron microscopy.
• Analysis of the common protein subunits implicated in cardiac amyloidosis.

Main Results:

• Amyloid deposits exhibit characteristic tinctorial properties and are universally fibrillar and protein-derived.
• Immunoglobulin light chain (AL) and transthyretin (TTR) account for over 90% of cardiac amyloidosis cases.
• Despite 70% of systemic amyloidosis patients having cardiac involvement, cardiologists diagnose it only 20% of the time.

Conclusions:

• There are significant gaps in cardiologists' knowledge and diagnostic workflows for amyloidosis.
• Early and accurate diagnosis of cardiac amyloidosis is essential for effective patient management.