Cardiac Amyloidosis: Presentations, Diagnostic Work-up and Collaborative Approach for Comprehensive Clinical...

Cardiac amyloidosis is a systemic disease characterized by continuous deposition of misfolded proteins called amyloid fibrils in the extracellular space which result in restrictive cardiomyopathy. The most common form of cardiac amyloidosis is light chain (AL) cardiac amyloidosis, a result of continuous deposition of misfolded monoclonal immunoglobulin light chains. Transthyretin-related cardiac amyloidosis (ATTR) results from a point mutation in the transthyretin gene in an autosomal dominant fashion and presents phenotypically similar to AL cardiac amyloidosis. Cardiac amyloidosis is being increasingly recognized due to the advancements in diagnostic cardiac imaging and pharmacotherapy. Clinicians should maintain a high index of suspicion among patients with unexplained diastolic heart failure because earlier diagnosis will allow for the implementation of disease-altering therapy. With established targeted drug therapies and further breakthroughs in immunotherapy, the potential impact of diagnostic and therapeutic advancements on morbidity and mortality of patients with cardiac amyloidosis is promising.