Cardiac amyloidosis: approaches to diagnosis and management

Amyloidosis is a clinical disorder caused by the extracellular deposition of misfolded, insoluble aggregated protein with a characteristic ss pleated sheet configuration that produces apple-green birefringence under polarized light when stained with Congo red dye. The spectrum of organ involvement can include the kidneys, heart, blood vessels, central and peripheral nervous systems, liver, intestines, lungs, eyes, skin, and bones. Cardiovascular amyloidosis can be primary, a part of systemic amyloidosis, or the result of chronic systemic disease elsewhere in the body. The most common presentations are congestive heart failure because of restrictive cardiomyopathy and conduction abnormalities. Recent developments in imaging techniques and extracardiac tissue sampling have minimized the need for invasive endomyocardial biopsy for amyloidosis. Cardiac amyloidosis management will vary depending on the subtype but consists of supportive treatment of cardiac related symptoms and reducing the amyloid fibrils formation attacking the underlying disease. Despite advances in treatment, the prognosis for patients with amyloidosis is still poor and depends on the underlying disease type. Early diagnosis of cardiac amyloidosis may improve outcomes but requires heightened suspicion and a systematic clinical approach to evaluation. Delays in diagnosis, uncertainties about the relative merits of available therapies, and difficulties in mounting large-scale clinical trials in rare disorders combine to keep cardiac amyloidosis a challenging problem. This review outlines current approaches to diagnosis, assessment of disease severity, and treatment of cardiac amyloidosis.