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Prognostic Role of Myocarditis-Like Episodes and Their Treatment in Patients With Pathogenic Desmoplakin Variants

Title: Prognostic Role of Myocarditis-Like Episodes and Their Treatment in Patients With Pathogenic Desmoplakin Variants
Authors: Gasperetti, A; Muller, SA; Peretto, G; Asatryan, B; Protonotarios, A; Laredo, M; Tarlet, PY; Syrris, P; Carrick, RT; Murray, B; Tichnell, C; Scheel, P; Gigli, M; Yap, SC; Pilichou, K; Basso, C; Medo, K; Jason, M; Rossi, VA; Saguner, AM; Duru, F; Abrams, D; Cadrin-Tourigny, J; Targetti, M; Pieroni, M; Graziosi, M; Biagini, E; Charron, P; Cox, M; Casella, M; Tondo, C; Ware, JS; Prasad, SK; Calò, L; Smith, E; Ingles, J; Tandri, H; Ader, F; Peters, S; Zentner, D; Russo, J; Ravaro, S; Crotti, L; Dittmann, S; Shulze-Bahr, E; Carruth, ED; Krysov, VA; Parikh, VN; Conte, G; Wilde, A; Van Tintelen, JP; Te Riele, ASJM; Sinagra, G; Mestroni, L; Taylor, M; Merlo, M; Adamo, L; Calkins, H; Bauce, B; Arbelo, E; Elliott, PM; Gandjbakhch, E; Lakdawala, N; Helms, A; James, CA; Gilotra, NA
Source: Circulation , 152 (14) pp. 978-989. (2025)
Publisher Information: Ovid Technologies (Wolters Kluwer Health)
Publication Year: 2025
Collection: University College London: UCL Discovery
Subject Terms: arrhythmias; cardiac; cardiomyopathies; death; sudden; genetics; inflammation; myocarditis; risk assessment
Description: BACKGROUND: Inflammatory, myocarditis-like episodes precede and are associated with higher risk of sustained ventricular arrhythmias and heart failure in patients with pathogenic or likely pathogenic desmoplakin (DSP) variants. Whether the recurrence and treatment of myocarditis-like episodes influence the outcomes in this population is unknown. This study aimed to assess the prognostic impact of the recurrence and treatment of myocarditis-like episodes in patients with pathogenic or likely pathogenic DSP variants. METHODS: The study was designed as an observational cohort study using all patients with pathogenic or likely pathogenic DSP variants in the DSP-ERADOS Network (Desmopakin Specific Effort for a Rare Disease Outcome Study) enrolled at 31 institutions up until April 30, 2024. Survival from ventricular arrhythmia and heart failure end points and recurrent myocarditis-like episodes was evaluated for both first and recurrent documented myocarditis-like episodes and the impact of immunosuppressive treatment on outcomes assessed. RESULTS: A total of 1014 patients with pathogenic or likely pathogenic DSP variants (62.4% female; mean age, 40.4±17.4 years; 47.1% probands) were included. Among them, 177 individuals (17.5%) experienced ≥1 documented myocarditis-like episode, with 63 of them (35.6%) receiving immunosuppressive treatment. Immunosuppressive treatment of the first documented myocarditis-like episode was associated with reduced risk of ventricular arrhythmia and heart failure outcomes (hazard ratio, 0.18 [95% CI, 0.07-0.45]; P
Document Type: article in journal/newspaper
File Description: text
Language: English
Relation: https://discovery.ucl.ac.uk/id/eprint/10213302/1/Syrris_Prognostic%20Role%20of%20Myocarditis.pdf; https://discovery.ucl.ac.uk/id/eprint/10213302/
Availability: https://discovery.ucl.ac.uk/id/eprint/10213302/1/Syrris_Prognostic%20Role%20of%20Myocarditis.pdf; https://discovery.ucl.ac.uk/id/eprint/10213302/
Rights: open
Accession Number: edsbas.D0884F8B
Database: BASE