Cardiac Involvement is Underdiagnosed in Patients with Biopsy-Proven Systemic AL Amyloidosis

Background: Clinical recognition of cardiac involvement and cardiac response to therapy is an important element of clinical care in patients with AL amyloidosis. The new criteria including NT-proBNP, troponin, and echocardiography for assessment of cardiac involvement in patients with systemic AL amyloidosis were proposed in 2004, but there are limited data on the utilization of these in clinical practice. Methods We retrospectively reviewed the clinical data of 28 patients with AL amyloidosis. Clinical diagnosis of cardiac amyloidosis was based on medical record documentation of symptomatic heart failure without other causes. Then we used the criteria from the current NCCN Guidelines to reassess cardiac involvement. Results 14 cases (50%) had clinical diagnosis of cardiac amyloidosis at the time of diagnosis and also met the NCCN criteria. An additional 6 cases without clinical diagnosis of cardiac amyloidosis met the NCCN criteria. In total, 20 patients (71.4%) met the NCCN criteria for cardiac involvement. No routine follow-up testing with echocardiography and biomarkers was documented during treatment for any of the patients. Conclusions Diagnosis of cardiac amyloidosis based on presence of heart failure symptoms led to underdiagnosis of cardiac involvement defined by the NCCN criteria. Guideline recommended assessment of cardiac involvement and cardiac response to treatment was not routinely implemented in our cohort