Cardiac Amyloid — An Update

Abstract

Cardiac amyloidosis is a condition characterised by rapidly progressive heart failure and poor prognosis. The two main subtypes, immunoglobulin light chains (AL) and transthyretin (ATTR), have been investigated extensively in recent years. Cardiac imaging has advanced with the widespread use of cardiac MRI with late gadolinium enhancement imaging and newer techniques including T1 mapping to quantify amyloid burden. Nuclear imaging has developed as a highly accurate method to confirm cardiac amyloid deposits non-invasively with very high sensitivity in ATTR amyloidosis. Despite advances in imaging, cardiac biopsy remains the gold standard diagnostic test to confirm and type amyloidosis. Hereditary ATTR amyloidosis of V122I type has been the focus of important studies in the past year, due to the high prevalence of the amyloidogenic allele in patients of African descent. Recent research concluded a significant number of Afro-Caribbean heart failure patients are likely to have undiagnosed cardiac amyloidosis. Misdiagnosis may lead to inappropriate treatment with potentially harmful ‘standard’ heart failure medications with no evidence base in amyloidosis. Treatment options have, until recently, been limited but cardiac amyloidosis is the focus of novel therapeutic regimes. New insights into the pathophysiological mechanisms resulting in disease have suggested exciting targets for drug therapy.