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Cited by 40Viral Infections and Immunology ResearchCardiomyopathy and Myosin StudiesCardiovascular Effects of Exercise

Multimodal Detection and Targeting of Biopsy-Proven Myocardial Inflammation in Genetic Cardiomyopathies

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Peretto, Giovanni, De Luca, Giacomo, Villatore, Andrea, Di Resta, Chiara, Sala, Simone, Palmisano, Anna, Vignale, Davide, Campochiaro, Corrado +11 more·2023·JACC: Basic to Translational Science
DOI 10.1016/j.jacbts.2023.02.018PMC PMC10401291
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Abstract

The authors present a clinical report focused on the overlap between myocarditis and genetic cardiomyopathies of the dilated and arrhythmogenic spectrum. Our cohort was composed of 25 patients undergoing extensive baseline characterization and prospective reassessment by a dedicated multidisciplinary disease unit during a median follow-up of 69 months. We showed that the use of multimodal imaging allowed both discrimination of specific genotypes and identification of myocardial inflammation proven using endomyocardial biopsy. In addition, we showed that the use of immunomodulatory therapy was beneficial for most patients.

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  • Inflammatory infiltrates consistent with T lymphocytes and monocytes are frequently reported in pathological samples from both ventricles of patients with ACM, often fulfilling Dallas and ESC criteria for acute myocarditis, with or without detection of cardiac viral genomes.

    “Inflammatory infiltrates, consistent with T lymphocytes and monocytes, are frequently reported in pathological samples from both ventricles of patients with ACM [15,17,42,43], often fulfilling both the Dallas and European Society of Cardiology (ESC) criteria for acute myocarditis [44,45], with or without the detection of cardiac viral genomes.”

    From A Paradigm Shift: Arrhythmogenic Cardiomyopathy Is an Inflammatory Disease (2026) · cites this paper as [45]

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  • Case series describe favorable responses to immunosuppression in patients with biopsy-proven myocarditis carrying DGVs, particularly during DSP-related "hot phases", where treatment may reduce chest pain and VAs, likely through attenuation of myocardial inflammation and edema.

    “Case series describe favorable responses to immunosuppression in patients with biopsy-proven myocarditis carrying DGVs, particularly during DSP-related “hot phases”, where treatment may reduce chest pain and VAs, likely through attenuation of myocardial inflammation and edema [45,57,112].”

    From A Paradigm Shift: Arrhythmogenic Cardiomyopathy Is an Inflammatory Disease (2026) · cites this paper as [45]

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  • In ACM, IL-1 inhibition has been employed on an individualized basis, particularly in patients with DSP-related ACM with recurrent inflammatory flares, with promising effects.

    “In the setting of ACM, IL-1 inhibition has been employed on an individualized basis, particularly in patients with DSP-related ACM with recurrent inflammatory flares, with promising effects [45,57].”

    From A Paradigm Shift: Arrhythmogenic Cardiomyopathy Is an Inflammatory Disease (2026) · cites this paper as [45]

    The Methods (Treatment strategies; page unavailable) describe patient-tailored immunomodulatory treatment, and Table 1 (Results, Baseline clinical features; page unavailable) lists anakinra for a patient with a DSP variant. The Results (Outcomes; page unavailable) report recurrent hot-phase bursts in some DSP patients and fewer adverse events during immunomodulatory treatment overall. They do not link the anakinra-treated DSP patient specifically to recurrent flares or establish promising effects of IL-1 inhibition separately from the other drugs used. (LLM, conf=0.86)

    Experimental — accuracy not yet measured

  • Similar benefits have been reported in selected patients with ACM.

    “Similar benefits have been reported in selected patients with ACM.”

    From A Paradigm Shift: Arrhythmogenic Cardiomyopathy Is an Inflammatory Disease (2026) · cites this paper as [45]

  • Conventional immunosuppression in ACM populations appears safe, provided exclusion of clinical contraindications, including active myocardial viral infection.

    “Conventional immunosuppression in ACM populations appears to be safe, provided the exclusion of clinical contraindications, including active myocardial viral infection [45,57].”

    From A Paradigm Shift: Arrhythmogenic Cardiomyopathy Is an Inflammatory Disease (2026) · cites this paper as [45]

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Authors
Peretto, G., De Luca, G., Villatore, A., Di Resta, C., Sala, S., Palmisano, A., Vignale, D., Campochiaro, C., Lazzeroni, D., De Gaspari, M., Rizzo, S., Busnardo, E., Ferro, P., Gianolli, L., Basso, C., Dagna, L., Esposito, A., Benedetti, S., & Della Bella, P.
Affiliations
  • Vita-Salute San Raffaele University (IT)
  • IRCCS Ospedale San Raffaele (IT)
  • Don Carlo Gnocchi Foundation (IT)
  • University of Padua (IT)
  • Ospedale dei Bambini Vittore Buzzi (IT)
Corresponding author
Peretto, Giovanni
ORCID
Venue
JACC: Basic to Translational Science
Publisher
Elsevier BV
Published
2023-07
Volume
8
Issue
7
Pages
755-765
ISSN
2452-302X (ISSN-L)
DOI
10.1016/j.jacbts.2023.02.018
PMC
PMC10401291
OpenAlex
W4383216466
Cited by
40
References
3
Citations by year
2026: 15 · 2025: 17 · 2024: 4 · 2023: 4
FWCI
7.87
Type
journal article
Language
en
Open access
Licence
Locations
  • JACC Basic to Translational Science (publishedVersion, cc-by-nc-nd)
  • PubMed Central (publishedVersion, cc-by-nc-nd)
  • PubMed (publishedVersion)
  • Archivio Istituzionale della Ricerca - Università Vita-Salute San Raffaele (submittedVersion, cc-by-nc-nd)
  • Padua Research Archive (University of Padova) (submittedVersion, cc-by-nc-nd)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Topics
  • Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Viral Infections and Immunology Research
  • Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiomyopathy and Myosin Studies
  • Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiovascular Effects of Exercise
Keywords
myocarditis, familial cardiomyopathy, dilated cardiomyopathy, arrhythmogenic cardiomyopathy, endomyocardial biopsy, multimodal imaging, genotype discrimination, immunomodulatory therapy, disease progression

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