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Assessing the diagnostic value of right ventricular strain and thickness in the differential diagnosis of Fabry cardiomyopathy and hypertrophic cardiomyopathy
Session:
Sessão de Posters 21 - Por dentro do miocárdio: da genética aos resultados
Speaker:
Emídio Mata
Congress:
CPC 2026
Topic:
K. Cardiovascular Disease In Special Populations
Theme:
30. Cardiovascular Disease in Special Populations
Subtheme:
30.14 Cardiovascular Disease in Special Populations - Other
Session Type:
Posters Eletrónicos
FP Number:
---
Authors:
Mariana Tinoco; Emidio Mata; Luísa Pinheiro; Tamara Pereira; Margarida Castro; Bárbara Lage Garcia; Mário Lourenço; Filipa Castro; Filipa Cordeiro; Marina Fernandes; Olga Azevedo; António Lourenço
Abstract
<p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Aptos,sans-serif"><strong><span style="font-size:11.0pt">Background: </span></strong><span style="font-size:11.0pt">Cardiac involvement in Fabry Disease (FD) and Hypertrophic Cardiomyopathy (HCM) presents with overlapping features, making differentiation challenging. Two-dimensional speckle-tracking echocardiography (2D-STE) offers a detailed assessment of right ventricle (RV) myocardial mechanics. Parameters such as RV free wall strain (RV-FWS), RV wall thickness (RVWT), and their ratio may provide a unique opportunity to integrate structural and functional characteristics, potentially enhancing the accuracy of differential diagnosis.</span></span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Aptos,sans-serif"><strong><span style="font-size:11.0pt">Purpose: </span></strong><span style="font-size:11.0pt">To evaluate the diagnostic performance of RVWT, RV-FWS, and the RV-FWS/RVWT ratio in distinguishing FD from HCM.</span></span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Aptos,sans-serif"><strong><span style="font-size:11.0pt">Methods: </span></strong><span style="font-size:11.0pt">This retrospective study analyzed matched controls (n=30) and cohorts of FD (n=30) and HCM (n=30) patients referred for cardiomyopathy evaluations between 2014 and 2021. Two blinded researchers assessed RV function using echocardiography and 2D-STE. Continuous variables were compared using the Student’s t-test or Mann-Whitney U test, depending on the data distribution. Diagnostic performance of RVWT, RV-FWS, and their ratio was evaluated using receiver operating characteristic (ROC) analysis. Pairwise comparison of ROC curves among these parameters was performed using DeLong’s method.</span></span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Aptos,sans-serif"><strong><span style="font-size:11.0pt">Results: </span></strong><span style="font-size:11.0pt">RVWT was higher in FD (mean = 7.42 ± 1.08 mm) compared to HCM (mean = 5.49 ± 0.89 mm), with P < 0.001. RV-FWS showed no significant difference between FD (mean = 25.02 ± 3.98 %) and HCM (mean = 25.05 ± 3.75 %), with P = 0.976. The RV-FWS/RVWT ratio was higher in HCM (mean = 4.71 ± 1.18) compared to FD (mean = 3.43 ± 0.70), with P < 0.001. In ROC analysis, RVWT had an area under the curve (AUC) of 0.911 (95% CI: 0.809–0.969, P < 0.001) with an associated cutoff of >6.5 mm, sensitivity of 83.33%, and specificity of 90.00%. The RV-FWS/RVWT ratio demonstrated an AUC of 0.820 (95% CI: 0.699–0.907, P < 0.001) with a cutoff of ≤4.34, sensitivity of 96.67%, and specificity of 56.67%. When comparing AUC, RVWT was significantly higher than the RV-FWS/RVWT ratio (P = 0.0351).</span></span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Aptos,sans-serif"><strong><span style="font-size:11.0pt">Conclusions: </span></strong><span style="font-size:11.0pt">Although the RV-FWS/RVWT ratio demonstrated high sensitivity, it did not significantly enhance diagnostic accuracy compared to RVWT alone. The structural and functional patterns of RV involvement differ between FD and HCM, but these differences were not sufficiently captured by this ratio to provide substantial additional diagnostic benefit. RVWT remains a more reliable parameter for distinguishing between these conditions.</span></span></span></p>
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