The challenging diagnosis of cardiac amyloidosis

Abstract

Cardiac amyloidosis is a rare condition. Early diagnosis allows for more effective treatment with subsequent improvements in patient quality of life and survival. There is, however, often a significant delay between the initial presentation with symptoms and the eventual diagnosis. We present seven individual cases presenting to our centre over a 12-month period for whom the final diagnosis was cardiac amyloidosis. We look at the difficulties encountered and alternative diagnoses that were considered before the eventual diagnosis of cardiac amyloidosis was made. We discuss the apparent discrepancies often encountered between the clinical signs and the results of various investigations. We review the various tests that can help the clinician to make the diagnosis in patients with suspected cardiac amyloidosis and look at the treatment options. Finally, we conclude that careful evaluation of the clinical status in the context of all available results should allow early diagnosis and treatment, thereby improving long-term prognosis.