Infarct-like myocarditis in adolescents: Exploring genetic insights from diagnosis through follow-up
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| Název: | Infarct-like myocarditis in adolescents: Exploring genetic insights from diagnosis through follow-up |
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| Autoři: | Roger, Esmel-Vilomara, Lucía, Riaza, Paola, Dolader, Benjamín, Rodríguez-Santiago, Amaia, Lasa-Aranzasti, Patricia, Muñoz-Cabello, Paula, Fernández-Álvarez, Marc, Figueras-Coll, Lisa, Bianco, Andrea, Bueno-Gómez, Laura, Vargas-Pons, Elisabet, Camprubí-Tubella, Cristina, Marimon-Blanch, Anna, Sabaté-Rotés, Ferran, Rosés-Noguer, Ferran, Gran |
| Přispěvatelé: | Institut Català de la Salut, [Esmel-Vilomara R] Facultat de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain. Servei de Cardiologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Pediatric Cardiology, Hospital de la Santa Creu i Sant Pau, Sant Pau Research Institute (IR Sant Pau), Barcelona, Spain. [Riaza L] Facultat de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain. Àrea de Radiologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Dolader P, Sabaté-Rotés A, Rosés-Noguer F, Gran F] Facultat de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain. Servei de Cardiologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Rodríguez-Santiago B] Facultat de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain. Clinical and Molecular Genetics, Hospital de la Santa Creu i Sant Pau, Sant Pau Research Institute (IR Sant Pau) and Center for Biomedical Network Research on Rare Diseases (CIBERER), Barcelona, Spain. [Lasa-Aranzasti A] Facultat de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Muñoz-Cabello P, Fernández-Álvarez P] Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Figueras-Coll M] Servei de Cardiologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Pediatric Cardiology, Hospital Universitari Doctor Josep Trueta, Girona, Spain. [Bianco L] Pediatric Cardiology, Ospedale Pediatrico Bambino Gesù, Rome, Italy. Pediatric Cardiology, Hospital General deGranollers, Granollers, Spain. [Bueno-Gómez A] Pediatric Cardiology, Hospital General de Granollers, Granollers, Spain, Vall d'Hebron Barcelona Hospital Campus |
| Zdroj: | Scientia Scientia. Dipòsit d'Informació Digital del Departament de Salut instname |
| Informace o vydavateli: | Elsevier BV, 2025. |
| Rok vydání: | 2025 |
| Témata: | ENFERMEDADES::enfermedades cardiovasculares::enfermedades cardíacas::miocardiopatías::miocarditis, Male, Other subheadings::Other subheadings::Other subheadings::/genetics, Adolescent, Myocardial Infarction, Magnetic Resonance Imaging, Cine, Miocarditis - Imatgeria per ressonància magnètica, Adolescents, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Genetic Testing, Otros calificadores::Otros calificadores::Otros calificadores::/genética, Humans, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Diagnostic Techniques and Procedures::Diagnostic Imaging::Tomography::Magnetic Resonance Imaging::Magnetic Resonance Imaging, Cine, Prospective Studies, Genetic Testing, Child, DISEASES::Cardiovascular Diseases::Heart Diseases::Cardiomyopathies::Myocarditis, DENOMINACIONES DE GRUPOS::personas::Grupos de Edad::adolescente, Cromosomes humans - Anomalies - Diagnòstic, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::técnicas y procedimientos diagnósticos::diagnóstico por imagen::tomografía::imagen por resonancia magnética::imagen de cinerresonancia magnética, Myocarditis, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::pruebas genéticas, Spain, NAMED GROUPS::Persons::Age Groups::Adolescent, Female, Miocarditis - Aspectes genètics, Follow-Up Studies |
| Popis: | 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.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.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.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. |
| Druh dokumentu: | Article |
| Popis souboru: | application/pdf |
| Jazyk: | English |
| ISSN: | 0167-5273 |
| DOI: | 10.1016/j.ijcard.2025.133255 |
| Přístupová URL adresa: | https://pubmed.ncbi.nlm.nih.gov/40246029 http://hdl.handle.net/11351/13146 |
| Rights: | CC BY |
| Přístupové číslo: | edsair.doi.dedup.....e7f789f2f64530e4b8b323ff697ffb23 |
| Databáze: | OpenAIRE |
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Nájsť tento článok vo Web of Science | Abstrakt: | 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.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.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.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. |
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| ISSN: | 01675273 |
| DOI: | 10.1016/j.ijcard.2025.133255 |