Infarct-like myocarditis in adolescents : Exploring genetic insights from diagnosis through follow-up
Esmel Vilomara, Roger (Institut de Recerca Sant Pau)
Riaza Martin, Lucía (Hospital Universitari Vall d'Hebron)
Dolader, Paola (Hospital Universitari Vall d'Hebron)
Rodríguez-Santiago, Benjamín (Institut de Recerca Sant Pau)
Lasa-Aranzasti, Amaia (Hospital Universitari Vall d'Hebron)
Muñoz-Cabello, Patricia (Hospital Universitari Vall d'Hebron)
Fernández-Álvarez, Paula (Hospital Universitari Vall d'Hebron)
Figueras-Coll, Marc (Hospital Universitari Vall d'Hebron)
Bianco, Lisa (Hospital General de Granollers)
Bueno-Gómez, Andrea (Hospital General de Granollers)
Vargas-Pons, Laura (Consorci Sanitari de Terrassa. Hospital Universitari de Terrassa)
Camprubí-Tubella, Elisabet (Hospital Universitari Joan XXIII de Tarragona)
Marimon-Blanch, Cristina (Hospital Universitari Sant Joan de Reus (Tarragona))
Sabaté-Rotés, Anna (Hospital Universitari Joan XXIII de Tarragona)
Rosés-Noguer, F. (Hospital Universitari Vall d'Hebron)
Gran, Ferran (Hospital Universitari Vall d'Hebron)
Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i de Medicina Preventiva i Salut Pública

Date:	2025
Abstract:	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.
Note:	Altres ajuts: acords transformatius de la UAB
Rights:	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.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	Infarct-like ; Myocarditis ; Adolescents ; Genetics ; Cardiac magnetic resonance
Published in:	International Journal of Cardiology, Vol. 432 (April 2025) , ISSN 1874-1754

DOI: 10.1016/j.ijcard.2025.133255

8 p, 2.3 MB

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Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut de Recerca Sant Pau
Articles > Research articles
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