Discussion1
Screening/Diagnosis
- Echo was the most frequently reported test conducted in studies in this review
- Limited sensitivity and specificity of Echo for ATTR-CM may contribute to missed or late diagnoses of amyloidosis
- Majority of studies included in the review were designed and conducted prior to the release of the multi-societal expert consensus recommendations
- None of the studies reported use of ECG or cardiac biomarkers (i.e., N-terminal pro-B-type natriuretic peptide, troponin)
- Use of Non-invasive nuclear scintigraphy was not commonly reported
- Cardiac and extracardiac biopsies were conducted together in 14 (37%) studies, and cardiac biopsy and DNA genotyping were conducted together in 13 (34%) studies
Additional guidance and broader education on consensus recommendations is needed to encourage more uniform application of assessment and diagnostic criteria