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Diagnostic performance of right ventricle wall thickness, strain, and their ratio in differentiating Fabry cardiomyopathy from wild-type transthyretin cardiac amyloidosis
Session:
Sessão de Posters 42 - Para além da hipertrofia: as faces ocultas da doença miocárdica
Speaker:
Bárbara Lage Garcia
Congress:
CPC 2026
Topic:
D. Heart Failure
Theme:
10. Chronic Heart Failure
Subtheme:
10.3 Chronic Heart Failure – Diagnostic Methods
Session Type:
Posters Eletrónicos
FP Number:
---
Authors:
Bárbara Lage Garcia; Luísa Pinheiro; Emídio Mata; Tamara Pereira; Margarida de Castro; Daniela Ferreira; Mário Lourenço; Filipa Cordeiro; Marina Fernandes; Lucy Calvo; Olga Azevedo; António Lourenço
Abstract
<p>Background: Cardiac involvement in Fabry disease (FD) and wild-type transthyretin cardiac amyloidosis (CA) often overlaps, complicating differential diagnosis. Two-dimensional speckle-tracking echocardiography(2D-STE) enables detailed assessment of right ventricular (RV) mechanics. Parameters such as RV free wall strain (RV-FWS), wall thickness (RVWT), and their ratio integrate structural and functional information,potentially improving diagnostic accuracy. </p> <p>Aim: To assess the diagnostic performance of RVWT, RV-FWS, and the RV-FWS/RVWT ratio in differentiating FD from CA. </p> <p>Methods: This retrospective study included FD (n=30) and CA (n=30) patients referred for cardiomyopathy evaluation between 2014 and 2021. RV was assessed by echocardiography and 2D-STE by two blindedresearchers. RV-FWS was analysed in absolute values. Diagnostic performance was evaluated using receiver operating characteristic (ROC) curve analysis, with pairwise ROC comparisons performed by DeLong’smethod. </p> <p>Results: CA patients were significantly older compared to FD patients (84±5 vs 53±7.25 years; p<0.001). NT-proBNP levels were markedly higher in CA compared to FD (5841±11742 vs 467±1203pg/mL; p<0.001).Cardiac parameters revealed significantly lower RV-FWS in CA (15.9±6.3%) versus FD (25.0±4.0%; p<0.001), higher RVWT in CA (9.0±1.75mm) versus FD (7.42±1.08mm; p<0.001), and a lower RV-FWS/RVWT ratio in CA(1.91±1.0) compared to FD (3.43±0.7; p<0.001). In ROC analysis, RV-FWS demonstrated an area under the curve (AUC) of 0.89 [0.78–0.96] (p<0.001) with a cutoff of >18.8 to identify FD (sensitivity: 96.7%; specificity:76.7%). RVWT showed an AUC of 0.76 [0.64–0.87] (p<0.001) with a cutoff of ≤7.7 to identify FD, (sensitivity: 66.7%; specificity: 83.3%). The RV-FWS/RVWT ratio exhibited an AUC of 0.88 [0.77–0.95] (p<0.001) with acutoff of >2.21 to identify FD (sensitivity:100%; specificity: 73.3%). Pairwise comparisons showed no difference between RV-FWS and RV-FWS/RVWT (p=0.763), a borderline difference between RV-FWS and RVWT(p=0.072), and a significant difference between RVWT and RV-FWS/RVWT (p=0.017). </p> <p>Discussion: The findings suggest that RV-FWS provides valuable insights for the differential diagnosis of FD and CA. However, the RV-FWS/RVWT ratio does not seem to add significant value to diagnostic accuracy, asthere was no significant difference in its performance compared to RV-FWS alone. Further validation in larger cohorts is warranted to confirm these findings. </p>
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