SPC365

Cardiac Magnetic Resonance Findings in Fabry Disease

Session: SESSÃO DE POSTERS 19 - IMAGEM NAS MIOCARDIOPATIAS
Speaker: Joao Santos Fonseca

Congress: CPC 2025
Topic: B. Imaging
Theme: 03. Imaging
Subtheme: 03.3 Cardiac Magnetic Resonance
Session Type: Cartazes
FP Number: ---
Authors: Joao Santos Fonseca; João Cravo; Ana Abrantes; Beatriz Garcia; Margarida Martins; Catarina Gregório; João Inácio; Joana Rigueira; Rui Plácido; Patrício Aguiar; Fausto J. Pinto; Ana G. Almeida
<p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Aptos,sans-serif"><strong><span style="font-size:10.5pt"><span style="font-family:&quot;Calibri&quot;,sans-serif">Introduction: </span></span></strong><span style="font-size:10.5pt"><span style="font-family:&quot;Calibri&quot;,sans-serif">Cardiac Magnetic Resonance (CMR) is a key non-invasive diagnostic method to diagnose and stage Fabry disease related cardiovascular involvement. Our study aimed to assess CMR parameters in patients with and without evidence in cardiac involvement at baseline and follow-up.</span></span></span></span></p>

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<p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Aptos,sans-serif"><strong><span style="font-size:10.5pt"><span style="font-family:&quot;Calibri&quot;,sans-serif">Methods: </span></span></strong><span style="font-size:10.5pt"><span style="font-family:&quot;Calibri&quot;,sans-serif">Retrospective study of patients, with Fabry disease, followed in a tertiary center. Patients underwent CMR at baseline and follow-up and CMR parameters such as: Left ventricle (LV) end-diastolic volume (EDV), LV mass, LV segmental wall thickness, LV and RV ejection fraction (EF); late gadolinium enhancement (LGE); native T1 and T2 relaxation times were analyzed.</span></span></span></span></p>

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<p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Aptos,sans-serif"><strong><span style="font-size:10.5pt"><span style="font-family:&quot;Calibri&quot;,sans-serif">Results</span></span></strong><span style="font-size:10.5pt"><span style="font-family:&quot;Calibri&quot;,sans-serif">: Thirty-six patients were included, 17 (47%) males. Time between the first CMR and the last one was 5.4 &plusmn; 0.8 years. Fifty-three percent of patients were on enzyme replacement/chaperone therapy. The CMR variables at baseline were: LVEDV 75.2 &plusmn; 3.7 mL/m<sup>2</sup>, LV mass 67.2 &plusmn; 8.2 g/m<sup>2</sup>, interventricular septum 11.6 &plusmn; 1.2 mm, posterior wall 8 &plusmn; 0.6 mm. Seventy-one percent of patients had no left/right ventricle hypertrophy. Eleven percent of patients had concentric/symmetric hypertrophy and 17% had asymmetric hypertrophy (mainly septal). LV and RV ejection fraction were 62.6 &plusmn; 1.1% and 59.6 &plusmn; 1.7%, respectively. Twenty percent of patients had late gadolinium enhancement (LGE), all in the classical inferior-lateral wall of the LV. T1 value was normal in 64% of patients and reduced in 29%. No pseudo normalization was observed. T2 value was normal in most patients (93%). There was a statistically significant difference in the posterior wall thickness between men and women: 9.3 &plusmn; 1.3 <em>vs.</em> 6.8 &plusmn; 0.4 mm (p = 0.04) with no difference in the frequency of therapy between genders. At follow-up, despite therapy, there were changes in several parameters: LVEDV 77.7 &plusmn; 3.6 mL/m<sup>2</sup>, LV mass 79 &plusmn; 11 g/m<sup>2</sup>, IVS 14.9 &plusmn; 1.8 mm, posterior wall 10 &plusmn; 1.3 mm. Thirty-three percent of patients had concentric/symmetric hypertrophy and 25% had asymmetric hypertrophy. Two patients presented right ventricular hypertrophy. T1 relaxation was decreased in 38% of patients. Pseudo normalization was observed in 7% of patients. LGE was present in 58% of patients, mainly in the inferior-lateral wall, but also in other segments such as the septal and anterior wall of the LV. We observed a higher progression of LV hypertrophy in men: interventricular wall thickness of 19.2 &plusmn; 2.1 <em>vs.</em> 10.6 &plusmn; 0.7 mm (p = 0.004) and inferolateral wall thickness of 12.5 &plusmn; 0.6 <em>vs.</em> 6.7 &plusmn; 0.6 mm (p = 0.002).</span></span></span></span></p>

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<p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Aptos,sans-serif"><strong><span style="font-size:10.5pt"><span style="font-family:&quot;Calibri&quot;,sans-serif">Conclusion: </span></span></strong><span style="font-size:10.5pt"><span style="font-family:&quot;Calibri&quot;,sans-serif">Our study shows the utility of CMR in tracking Fabry disease progression, demonstrating increase in LV hypertrophy, increase in the frequency of focal fibrosis and reduced T1 values, with greater LV hypertrophy progression in men comparing to women.</span></span></span></span></p>