Prevalence of transthyretin amyloidosis in patients with heart failure and no left ventricular hypertrophy

Abstract

Aims As evidenced by scintigraphy imaging, the prevalence of transthyretin (TTR) cardiac amyloidosis in heart failure patients with preserved ejection fraction (HFpEF) and left ventricular hypertrophy (LVH) ranges between 13% and 19%. The natural evolution of cardiac amyloidosis begins with the deposition of amyloid material in the myocardium, with LVH ensuing at later stages. With current imaging modalities, it is possible to detect TTR cardiac amyloidosis before the hypertrophic stage. The aim of this study was to determine the prevalence of TTR cardiac amyloidosis in HFpEF patients without LVH. Methods and resultsThe study prospectively enrolled patients admitted for HF with LV ejection fraction (LVEF) ≥ 50% and LV wall thickness <12 mm. TTR cardiac amyloidosis was diagnosed according to accepted criteria, which include positive cardiac 99-Tc-DPD scintigraphy in the absence of monoclonal protein expansion in blood. Transthyretin gene sequencing was performed in positive patients. From July 2017 to January 2020, 329 patients with HFpEF and LV thickness <12 mm were identified. After exclusions, 58 patients completed the study with cardiac scintigraphy (79 years, 54% men; median LVEF 60% and LV wall thickness 10.5 mm). Three patients (5.2%) were positive for TTR cardiac amyloidosis; genetic analysis excluded the presence of hereditary TTR amyloidosis. Positive patients baseline characteristics (84 years, 67% men, LVEF 60%, and LV wall thickness 11 mm) were similar to patients without TTR, except for troponin levels (0.05 vs. 0.02 ng/mL, P = 0.03) and glomerular filtration rate (82 vs. 60 mL/min, P = 0.032), which were higher in TTR patients. Conclusions In a cohort of patients with HFpEF without LVH, the prevalence of TTR cardiac amyloidosis was 5%. Early diagnosis of cardiac involvement in TTR amyloidosis (before manifest LVH) would seem recommendable because newly approved specific treatments can prevent additional deposition of amyloid material.

Assessment of clinical characteristics of cardiac amyloidosis as a potential underlying etiology in patients diagnosed with heart failure with preserved ejection fraction

“…In previous studies, the prevalence of ATTR-CA was reported to be between 13% and 19% in patients with unexplained LVH with HFpEF [5,14,15]. Also, in a study conducted on patients with HFpEF without LVH, it was reported that ATTR-CA was detected in 5% of these patients [2]. In our study, 65.9% of patients had LVH, of which approximately one-third was unexplained LVH.…”

“…Poisson regression analysis was used to evaluate the distribution of RF incidences in the ATTR-CA positive/negative groups. We expressed descriptive data as number (%) for categorical variables and compared them via the χ 2…”

“…Furthermore, it is more associated with comorbidities such as hypertension (HT), diabetes (DM), obesity, and chronic kidney disease (CKD) [1]. Recently, it has been established that cardiac amyloidosis (CA) is an important cause of HFpEF than previously thought [2,3]. The disease has two main subtypes: transthyretin CA (ATTR-CA) and immunoglobulin light chain CA (AL-CA).…”

Cardiac Amyloidosis with Normal Wall Thickness: Prevalence, Clinical Characteristics and Outcome in a Retrospective Analysis

“…In a recent study, Devesa et al prospectively examined patients with heart failure and preserved ejection fraction (HFpEF) and no IWT, what they defined as a wall thickness less than 12 mm [ 13 ]. With the use of 99-Tc-DPD scintigraphy in 58 patients they found three patients with ATTR.…”

Aetiological classification and prognosis in patients with heart failure with preserved ejection fraction

“…However, many studies have reported a potential under‐diagnosis of specific aetiologies underlying HFpEF, as notably exemplified by the increasing recognition of the importance of cardiac amyloidosis in HFpEF patients. 22 , 23 It is also possible that patients with a suspected specific cause underlying HF were more likely to be referred to a reference centre, which would have led to an overestimation of some causes (such as ischaemia, valvular, or hypertrophic cardiomyopathies) in our study. However, our standardized investigations of these patients should have limited the under‐detection of specific aetiologies in idiopathic HFpEF patients.…”