Abstract
INTRODUCTION: Current guidelines recommend suspecting transthyretin amyloid cardiomyopathy (ATTR-CM) in patients over 65 years of age with unexplained left ventricular (LV) hypertrophy in a non-dilated LV, heart failure (HF) and preserved ejection fraction (HFpEF), hypertrophic cardiomyopathy or severe aortic stenosis. However, there is evidence indicating a high prevalence of ATTR-CM in other HF phenotypes. As such, this study aimed to characterize the diversity of HF phenotypes of ATTR-CM by examining the LV ejection fraction and LV dilatation using echocardiography. METHODS: This multicentre, retrospective observational study included patients diagnosed with ATTR-CM between 2015-2023. The diagnosis was based on a positive cardiac biopsy or positive bone scintigraphy without monoclonal gammopathy. Echocardiographic measurements were categorized according to LV ejection fraction (LVEF) into HFpEF (LVEF ≥50%), HF with mildly reduced EF (HFmrEF, LVEF 40-49%), and HF with reduced EF (HFrEF, LVEF <40%). LV cavity size was categorized by LV end-diastolic diameter (LVEDD) and volume index (LVEDVi) as normal, moderately increased and severe dilatation. RESULTS: The study included 135 patients with ATTR-CM (mean age, 78 years; 89% male; 89% wild-type ATTR-CM). Most patients were screened for ATTR-CM because of unexplained HF and increased LV wall thickness (57%). Echocardiography showed LVEF <50% in 60% of the patients, with a significant portion presenting with HFrEF. Patients with LVEF <50% had higher NYHA class and elevated N-terminal pro-B-type natriuretic peptide levels than HFpEF patients. LV dilatation was observed in 43% of the patients, with 10% presenting with both LVEF <50% and severe LV dilatation. CONCLUSION: This study revealed significant variability in HF phenotypes among patients with ATTR-CM, from HFpEF without LV dilatation to HFrEF with severe LV dilatation. Relying solely on HFpEF for screening may lead to under-diagnosis. These findings suggest the need for more comprehensive diagnostic criteria beyond echocardiographic measures to improve ATTR-CM detection and management.
Original language | English |
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Article number | 2418965 |
Journal | Annals of Medicine |
Volume | 56 |
Issue number | 1 |
DOIs | |
Publication status | Published - 1 Dec 2024 |
Keywords
- Echocardiography
- Transthyretin cardiac amyloidosis
- diagnostic guidelines
- heart failure
- left ventricular dilatation
- Humans
- Male
- Female
- Aged
- Heart Failure/physiopathology diagnosis
- Stroke Volume
- Retrospective Studies
- Amyloid Neuropathies, Familial/physiopathology diagnosis complications
- Phenotype
- Aged, 80 and over
- Cardiomyopathies/physiopathology diagnosis diagnostic imaging
- Hypertrophy, Left Ventricular/diagnostic imaging physiopathology diagnosis
- Ventricular Function, Left