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Alignment of genetic testing practices in acute myocarditis with contemporary ESC recommendations: A pre-guideline analysis
Session:
Sessão de Comunicações Orais 10 – Estratificação de risco guiada por imagem em situações cardíacas complexas
Speaker:
Catarina Santos-Jorge
Congress:
CPC 2026
Topic:
B. Imaging
Theme:
03. Imaging
Subtheme:
03.3 Cardiac Magnetic Resonance
Session Type:
Comunicações Orais
FP Number:
---
Authors:
C. Santos-Jorge; Francisco Sousa; Márcia Presume; Rita Santos; Cláudia Silva; Francisco Gama; Pedro Lopes; Pedro Freitas; Sara Guerreiro; João Abecassis; Pedro Pulido Adragão; António Ferreira
Abstract
<p style="text-align:justify"><strong><span style="font-size:11px"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">Background</span></span></span></strong></p> <p style="text-align:justify"><span style="font-size:11px"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">Acute myocarditis (AM) may overlap with inherited cardiomyopathies, with genetic variants influencing susceptibility to injury and adverse remodeling. Genetic testing is increasingly integrated into AM evaluation, as recommended by recent ESC guidelines for high-risk groups. We aimed to determine the proportion of AM patients meeting ESC testing criteria and the gap between eligibility and testing performed.</span></span></span></p> <p style="text-align:justify"><strong><span style="font-size:11px"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">Methods</span></span></span></strong></p> <p style="text-align:justify"><span style="font-size:11px"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">We conducted a retrospective observational single-center study including all patients diagnosed with acute myocarditis (2017–2025). Clinical, laboratory, and imaging data were collected (Fig.1). Cardiac magnetic resonance (CMR) was reviewed using Lake Louise criteria, and late gadolinium enhancement (LGE) was categorized by pattern; septal and/or ring-like involvement were deemed significant. Genetic testing eligibility followed 2025 ESC recommendations. Endomyocardial biopsy (EMB) results were recorded when available. </span></span></span></p> <p style="text-align:justify"><strong><span style="font-size:11px"><span style="font-family:Calibri,sans-serif"><span style="color:#000000">Results</span></span></span></strong></p> <p style="text-align:justify"><span style="font-size:11px"><span style="font-family:"Times New Roman",serif"><span style="color:#000000"><span style="font-family:Calibri,sans-serif">A total of 164 patients with AM were included (median age 40 years (IQR 24–55), 28% female). Nearly all patients were hospitalized (98%), and 12% had a complicated course, including cardiogenic shock (11%, n=18), ventricular arrhythmias (4.3%, n=7), complete AV block (3.7%, n=6), and cardiac arrest (3.1%, n=5) (Fig.2). Most cases represented first presentations (156, 95.1%), with 8 patients (4.9%) presenting with a recurrent episode. CMR was performed in 151 patients (92.1%). Significant LGE was present in 67 (40.8%), LV systolic dysfunction in 34 (20.7%), and biventricular dysfunction in 10 (6.1%). The pattern of LGE significantly influenced left ventricular functional recovery (p < 0.001) and the absence of significant LGE had a markedly higher likelihood of LVEF normalization than those with septal or ring-like patterns (OR = 8.36, 95% CI 2.26–30.96, p = 0.001). Of the 164 patients with AM, 77 (47%) met the 2025 ESC indications for genetic testing, yet only 5 (6.5% of eligible) underwent testing. Among the 5 patients who underwent genetic testing, 3 had negative results and 2 carried pathogenic variants (LMNA and MYBPC3). EMB was performed in 25 patients, with 17 confirming myocarditis. </span></span></span></span></p> <p style="text-align:justify"><strong><span style="font-size:11px"><span style="font-family:"Times New Roman",serif"><span style="color:#000000"><span style="font-family:Calibri,sans-serif">Conclusions</span></span></span></span></strong></p> <p style="text-align:justify"><span style="font-size:11px"><span style="font-family:"Times New Roman",serif"><span style="color:#000000"><span style="font-family:Calibri,sans-serif">Nearly half of AM patients in our pre-guideline cohort would have met the current ESC indications for genetic testing, yet very few underwent testing. These findings underscore the need to align practice with the newly released guidelines to improve detection of inherited risk and support appropriate patient and family management.</span></span></span></span></p>
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