Prevalence of transthyretin cardiac amyloidosis in undifferentiated heart failure with preserved ejection fraction

• Published in: ESC Heart Failure 2024-11
• Main Authors: Healy, L, Giblin, G, Gray, A, Starr, N, Murphy, L, O'Sullivan, D, Kavanagh, E, Howley, C, Tracey, C, Morrin, E, McDaid, A, Clarke, A, O'Neill, J O, Joyce, E, O'Connell, M, Mahon, N G
• Format: Article
• Language: English
• ISSN: 2055-5822; 2055-5822
• DOI: 10.1002/ehf2.15112

Transthyretin amyloid cardiomyopathy (ATTR-CM) is an increasinglyrecognized cause of heart failure with preserved ejection fraction (HFpEF), which may be diagnosed non-invasively using Tc 3,3-diphosphono-1,2-propanodicarboxylic acid (DPD) scintigraphy-based diagnostic criteria. Our aim was to determine the prevalence of ATTR-CM in an undifferentiated HFpEF cohort with a DPD scintigraphy-based screening protocol. Patients with HFpEF [ejection fraction (EF) ≥50%] aged ≥60 years and no prior evaluation for cardiac amyloidosis or known monoclonal gammopathy attending a regional cardiology network were screened with DPD scintigraphy. Patients with positive myocardial uptake (Perugini grade 2 or 3) were tested for a monoclonal protein and transthyretin gene variant. Eighty-six subjects were prospectively enrolled: 56% female, mean age 77 ± 8 years, 63% New York Heart Association (NYHA) Class III and median N-terminal pro-brain natriuretic peptide (NT-proBNP) 1766 ng/L [inter-quartile range (IQR) 731-3703]. DPD scintigraphy was positive in seven patients (8%). Monoclonal gammopathy of undetermined significance was present in one out of seven patients, and no pathogenic TTR gene variant was identified. The prevalence of wild-type ATTR-CM was 8% of this cohort. Compared with the HFpEF DPD scintigraphy-negative cohort, DPD scintigraphy-positive patients were older (86 ± 3 vs. 76 ± 8 years), more frequently male (16% vs. 2%, P = 0.02), and had significantly greater left ventricular (LV) wall thickness (16 vs. 12 mm; P = 0.002) and higher high-sensitivity troponin levels at diagnosis [78 ng/L (IQR 21-116) vs. 11 ng/L (IQR 9-17); P