SPC365

The Spectrum of Hypertrophic Cardiomyopathies – Where is Fabry?

Session: SESSÃO DE POSTERS 19 - IMAGEM NAS MIOCARDIOPATIAS
Speaker: Marta Vilela

Congress: CPC 2025
Topic: B. Imaging
Theme: 03. Imaging
Subtheme: 03.1 Echocardiography
Session Type: Cartazes
FP Number: ---
Authors: Marta Miguez Vilela; Miguel Raposo; Joao Cravo; Daniel Cazeiro; Diogo Ferreira; Catarina Sousa; Patricio Aguiar; João Agostinho; Fausto Pinto; Dulce Brito
<p style="text-align:justify"><span style="font-size:18px"><span style="font-family:Calibri,sans-serif"><strong>Introduction:</strong></span></span></p>

<p style="text-align:justify"><span style="font-size:18px"><span style="font-family:Calibri,sans-serif">Fabry cardiomyopathy (Fabry-CM) is a lysosomal storage disorder that can lead to left ventricular hypertrophy (LVH), often mimicking other forms of hypertrophic cardiomyopathy (HCM). Several studies have attempted to identify distinct features of Fabry-CM using routine diagnostic methods but differentiating it from other forms of HCM remains a diagnostic challenge. </span></span></p>

<p style="text-align:justify"><span style="font-size:18px"><span style="font-family:Calibri,sans-serif"><strong>Purpose: </strong></span></span></p>

<p style="text-align:justify"><span style="font-size:18px"><span style="font-family:Calibri,sans-serif">Assess key echocardiographic (echo) and electrocardiographic (EKG) features to differentiate Fabry-CM from other forms of HCM.</span></span></p>

<p style="text-align:justify"><span style="font-size:18px"><span style="font-family:Calibri,sans-serif"><strong>Methods: </strong></span></span></p>

<p style="text-align:justify"><span style="font-size:18px"><span style="font-family:Calibri,sans-serif"><span style="color:black">A retrospective, single-center study included patients with Fabry-CM and compared them to patients with other </span>conditions associated with <span style="color:black">LVH - </span>sarcomeric HCM, cardiac amyloidosis (CA), and aortic stenosis (AS). Patients in the Fabry-CM group were matched for age, gender, and comorbidities<span style="color:black">. Data from echo and EKG </span>at the time of diagnosis were collected.</span></span></p>

<p style="text-align:justify"><span style="font-size:18px"><span style="font-family:Calibri,sans-serif"><strong>Results:</strong></span></span></p>

<p style="text-align:justify"><span style="font-size:18px"><span style="font-family:Calibri,sans-serif">A total of 14 patients with Fabry-CM were compared to 15 with CA, 12 with HCM, and 12 with AS. The groups were similar in terms of age and gender distribution. The mean age was 59.4 &plusmn; 3.4 years, 69.2 &plusmn; 2.8 years, 62.2 &plusmn; 5.5 years, 65 &plusmn; 1.5 years, respectively (p=0.1). Males accounted for 64%, 66%, 58%, and 50% of each respective group (p=0.4). Fabry-CM was associated with a significantly lower interventricular septum/posterior wall thickness ratio (IVS/LVPW) compared to HCM (1.06 &plusmn; 0.03 vs. 1.57 &plusmn; 0.11; p&lt;0.001) and similar to CA and AS (1.13 &plusmn; 0.03 and 1.05 &plusmn; 0.03; p=0.2 and p=0.5, respectively). LVPW thickness was greater in Fabry-CM compared to HCM (14.9 &plusmn; 0.9 mm vs. 11.5 &plusmn; 0.6 mm; p=0.01), amyloidosis-CM (13.6 &plusmn; 0.5 mm; p=0.018) and AS (13.1 &plusmn; 0.1 mm; p=0.06).&nbsp;Ejection fraction (EF) and global longitudinal strain (GLS) were lower in Fabry-CM compared to HCM (EF: 56% &plusmn; 1.8 vs. 67.2% &plusmn; 0.9, p&lt;0.001; GLS: -13% &plusmn; 1.1 vs. -16% &plusmn; 0.9, p=0.02) and AS (EF: 61.3% &plusmn; 1.4, p=0.02; GLS: -15.45% &plusmn; 0.6, p=0.06). LVPW strain was reduced in Fabry-CM compared to HCM (-11.3 &plusmn; 1.4% vs. -16 &plusmn; 1.6%, p=0.019). Apical sparing was observed in 29% of Fabry-CM patients vs. 53% in CA (p=0.1). Fabry-CM also showed reduced right ventricular (RV) free wall strain compared to HCM (-17.7 &plusmn; 2.9% vs. -23.43 &plusmn; 1.3%, p=0.019) and a lower RV free wall strain/RV global strain ratio compared to CA (1.1 &plusmn; 0.01 vs. 1.3 &plusmn; 0.1, p=0.03).&nbsp;Regarding EKG, Fabry-CM was strongly associated with a short PR interval and a prominent R wave in aVL (&gt;1.1 mV) compared to other hypertrophic entities (short PR:&nbsp; 7 (13%) in Fabry-CM patients compared to none in the remaining groups (p&lt;0.001); R wave in aVL &gt;1.1 m: 9 (17%) vs. 1 (2%), (p&lt;0.001).</span></span></p>

<p style="text-align:justify"><span style="font-size:18px"><span style="font-family:Calibri,sans-serif"><strong><span style="color:black">Conclusion: </span></strong></span></span></p>

<p style="text-align:justify"><span style="font-size:18px"><span style="font-family:&quot;Calibri&quot;,sans-serif">Routine exams can play a key role in identifying Fabry-CM among patients with other forms of HCM. Key features include a lower IVS/LVPW ratio, increased LVPW thickness, reduced LVPW strain and RV free wall strain, shorter PR interval and a prominent R wave in aVL.</span></span></p>