Red Flags for Differentiating Desmosomal “Hot‐Phase” Cardiomyopathy From Acute Myocarditis

BACKGROUND: Desmosomal "hot-phase" cardiomyopathy (HPC), characterized by bursts of myocardial inflammation mimicking acute myocarditis (AM), carries relevant risks of adverse outcomes. This study aimed to identify diagnostic "red flags" favoring HPC over AM. METHODS: Patients (n=134) receiving a first diagnosis of AM, proven by endomyocardial biopsy or cardiac magnetic resonance plus troponin elevation, were retrospectively identified at a referral center. HPC was defined by presence of pathogenic desmosomal gene variants (DGVs). Clinical, imaging, and electrical features were compared between HPC cases and controls with gene-negative AM to identify red flags. Diagnostic algorithms were derived and tested in an external multicenter cohort of DGV carriers (n=30). RESULTS: =0.007). When matched 1:1 by age, sex, and presentation, DGV carriers showed distinctive red flags: family history of cardiomyopathy/AM/sudden death; recurrent troponin peaks; persistent left ventricular systolic dysfunction; right ventricular involvement; ring-like late gadolinium enhancement; late gadolinium enhancement persistence or extension; low QRS voltages; life-threatening ventricular arrhythmias at <45 years; persistent >1000/24 hours ventricular ectopy; and recurrent nonsustained ventricular tachycardia. A "first-contact" algorithm based on female sex and age <30 years achieved 77% accuracy, identifying 63% of DGV carriers in the external cohort. An alternative algorithm incorporating ring-like late gadolinium enhancement, right ventricular involvement, and family history showed higher accuracy (93%) and yield (93%). CONCLUSIONS: Myocarditis in DGV carriers predominantly affects young women. A red flag-based approach improves recognition of desmosomal HPC over classic AM.

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Journal
Journal of the American Heart Association
Published
2026-04-07
DOI
https://doi.org/10.1161/jaha.125.044887
Primary Topic
Viral Infections and Immunology Research
Type
article
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article

Red Flags for Differentiating Desmosomal “Hot‐Phase” Cardiomyopathy From Acute Myocarditis

Maria Perotto, Kalliopi Pilichou, Chiara Di Resta, Cinzia Radesich et al.
Journal of the American Heart Association
Viral Infections and Immunology Research
article

Red Flags for Differentiating Desmosomal “Hot‐Phase” Cardiomyopathy From Acute Myocarditis

Maria Perotto, Kalliopi Pilichou, Chiara Di Resta, Cinzia Radesich, Maurizio Pieroni, Eric D. Smith, Elisa Bruno, Michele Ciabatti, M Merlo, Alessia Paldino, Monica De Gaspari, Giulia Bassetto, Alex Melot, Nicolas Piriou, Marika Martini, Barbara Bauce, L. Calò, P Della Bella, G Peretto, Alessia F. Trezza, Andrea Villatore, Cristina Basso, Antonio Esposito, Alessio Gasperetti, Gianfranco Sinagra, Stefania Rizzo, Anna Palmisano, Adam Helms
article en

Abstract

BACKGROUND: Desmosomal "hot-phase" cardiomyopathy (HPC), characterized by bursts of myocardial inflammation mimicking acute myocarditis (AM), carries relevant risks of adverse outcomes. This study aimed to identify diagnostic "red flags" favoring HPC over AM. METHODS: Patients (n=134) receiving a first diagnosis of AM, proven by endomyocardial biopsy or cardiac magnetic resonance plus troponin elevation, were retrospectively identified at a referral center. HPC was defined by presence of pathogenic desmosomal gene variants (DGVs). Clinical, imaging, and electrical features were compared between HPC cases and controls with gene-negative AM to identify red flags. Diagnostic algorithms were derived and tested in an external multicenter cohort of DGV carriers (n=30). RESULTS: =0.007). When matched 1:1 by age, sex, and presentation, DGV carriers showed distinctive red flags: family history of cardiomyopathy/AM/sudden death; recurrent troponin peaks; persistent left ventricular systolic dysfunction; right ventricular involvement; ring-like late gadolinium enhancement; late gadolinium enhancement persistence or extension; low QRS voltages; life-threatening ventricular arrhythmias at <45 years; persistent >1000/24 hours ventricular ectopy; and recurrent nonsustained ventricular tachycardia. A "first-contact" algorithm based on female sex and age <30 years achieved 77% accuracy, identifying 63% of DGV carriers in the external cohort. An alternative algorithm incorporating ring-like late gadolinium enhancement, right ventricular involvement, and family history showed higher accuracy (93%) and yield (93%). CONCLUSIONS: Myocarditis in DGV carriers predominantly affects young women. A red flag-based approach improves recognition of desmosomal HPC over classic AM.

Journal of the American Heart AssociationVol. 15(8)
Centre National de la Recherche Scientifique (FR), University of Padua (IT), Johns Hopkins University (US), Vita-Salute San Raffaele University (IT), Inserm (FR), University of Michigan (US), Johns Hopkins Medicine (US), Ospedale San Donato (IT), Institut du Thorax (FR), Policlinico Casilino (IT), Istituti di Ricovero e Cura a Carattere Scientifico (IT), Azienda Sanitaria Universitaria Integrata di Trieste (IT), Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele (IT), University of Florence (IT)
Gender equality
Openalex Percentile: Top 30%
Viral Infections and Immunology Research
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