Clinical experience of a systemic algorithm for diagnosis of cardiac amyloidosis

INTRODUCTION: Cardiac amyloidosis is an underdiagnosed disease, and its prevalence is probably higher than previously estimated. We aimed to investigate the effect of introducing a systemic diagnostic algorithm for cardiac amyloidosis in clinical practice.

METHODS: A systematic diagnostic algorithm was developed and clinically applied in two hospitals in Eastern Denmark. Elderly patients (males > 60 years, females > 70 years) with left ventricular hypertrophy (≥ 12 mm) and diastolic dysfunction leading to a suspicion of cardiac amyloidosis were referred for standardised workup, including biochemistry and bone scintigraphy.

RESULTS: A total of 224 patients (median age 76 years (70-83); 65% males) were included in the analysis. In total, 43 (19%) patients (84% males) were diagnosed with cardiac amyloidosis. Among the 43 diagnosed patients, 38 had transthyretin wild-type amyloidosis, one had the hereditary form and four had monoclonal-immunoglobulin-light-chain amyloidosis. Patients with cardiac amyloidosis were significantly older (81 versus 75 years old, p less-than 0.001) and more often male (84% versus 61%, p = 0.004) than the overall screened population.

CONCLUSIONS: Systematic screening for cardiac amyloidosis in older patients with cardiac hypertrophy and echocardiographic signs of diastolic dysfunction is feasible and shows a diagnostic yield of 19% in the assessed population.

FUNDING: None.

TRIAL REGISTRATION: Not relevant.