2026-04-13T06:58:38Zhttps://recercat.cat/oai/request

oai:recercat.cat:2072/4842122025-08-31T18:11:27Zcom_2072_98col_2072_378192

Infarct-like myocarditis in adolescents : Exploring genetic insights from diagnosis through follow-up Esmel Vilomara, Roger Riaza Martin, Lucía Dolader, Paola Rodríguez-Santiago, Benjamín Lasa-Aranzasti, Amaia Muñoz-Cabello, Patricia Fernández-Álvarez, Paula Figueras-Coll, Marc Bianco, Lisa Bueno-Gómez, Andrea Vargas-Pons, Laura Camprubí-Tubella, Elisabet Marimon-Blanch, Cristina Sabaté-Rotés, Anna Rosés-Noguer, F. Gran, Ferran Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i de Medicina Preventiva i Salut Pública Infarct-like Myocarditis Adolescents Genetics Cardiac magnetic resonance Altres ajuts: acords transformatius de la UAB Background: Myocarditis has traditionally been considered an acquired condition, but recent evidence suggests a genetic contribution, primarily in complicated cases. Data on pediatric uncomplicated or infarct-like myocarditis remain scarce. This study aimed to assess the prevalence of pathogenic or likely pathogenic (P/LP) variants in adolescents with infarct-like myocarditis and their association with clinical and imaging findings. Methods: This prospective, multicenter study included 30 adolescents diagnosed with infarct-like myocarditis across five hospitals in Catalunya, Spain (2016-2024). Diagnosis was confirmed using the 2018 Lake Louise Criteria on cardiac magnetic resonance imaging (CMR). Follow-up CMR was performed at 12 months, and genetic testing was conducted using a next-generation sequencing panel targeting 174 genes associated with inherited cardiac diseases. Results: P/LP variants in cardiomyopathy-associated genes were identified in 22.2 % of patients. Baseline CMR showed no significant differences in ventricular function or LGE extent, but a ring-like LGE pattern was significantly associated with genetic findings (p = 0.025), while septal involvement showed a p-value of 0.056. Over a median follow-up of 3 years (IQR 2-7), 9 patients (30 %) experienced recurrent myocarditis, more frequently in genetic-positive patients (66.7 % vs. 23.8 %). At 12 months, genetic-positive patients exhibited a greater LGE burden (p = 0.047) and persistent myocardial edema on T2-STIR (p = 0.009), suggesting ongoing myocardial remodeling. Conclusions: The high prevalence of P/LP variants in infarct-like myocarditis highlights the need for genetic testing, particularly in patients with a ring-like LGE pattern or septal involvement. Persistent CMR abnormalities and symptomatic recurrences in genetic-positive cases support long-term monitoring, even in seemingly uncomplicated presentations. 2025 Article International Journal of Cardiology ; Vol. 432 (April 2025) open access Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original. https://creativecommons.org/licenses/by/4.0/