Advancements in Diagnosis and Management of Cardiomyopathies: Bridging Basic Science to Personalized Therapy

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Cardiovascular Medicine".

Deadline for manuscript submissions: 31 December 2024 | Viewed by 868

Special Issue Editors


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Guest Editor
1. Inherited and Rare Cardiovascular Diseases Unit, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy
2. Institute of Cardiovascular Science, University College London, London, UK
Interests: myocardial diseases; cardiomyopathies; genetic cardiovascular disease; rare cardiovascular diseases; congenital heart diseases
Special Issues, Collections and Topics in MDPI journals

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Guest Editor
Department of Translational Medical Sciences, Inherited and Rare Heart Disease, Vanvitelli Cardiology, University of Campania Luigi Vanvitelli, 80131 Naples, Italy
Interests: cardiomyopathies; sudden death; rare disease; heart failure; genetic cardiovascular diseases
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Cardiomyopathy represents a complex group of heart muscle diseases that significantly impact global health. Recent advancements in both diagnosis and management have revolutionized our understanding of cardiomyopathy and its treatment strategies. This proposed Special Issue aims to explore the latest developments in the field, spanning from basic science to the application of personalized therapies.

This Special Issue will encompass a wide array of topics related to cardiomyopathy, including, but not limited to, the following:

  • Genetic insights: Exploration of genetic mechanisms underlying various forms of cardiomyopathy, including hypertrophic, dilated, and restrictive cardiomyopathies.
  • Diagnostic innovations: Novel imaging techniques, biomarkers, and genetic testing approaches for early diagnosis and phenotyping of cardiomyopathy.
  • Pathophysiological mechanisms: Understanding the molecular and cellular pathways implicated in the development and progression of cardiomyopathy.
  • Emerging therapeutic strategies: Evaluation of pharmacological interventions, gene therapies, and device-based approaches for managing cardiomyopathy.
  • Precision medicine approaches: Application of personalized medicine paradigms to tailor treatment strategies based on individual patient characteristics and genetic profiles.
  • Clinical management challenges: Addressing clinical dilemmas and optimizing the management of cardiomyopathy across different patient populations.

Manuscripts submitted to this Special Issue should present original research findings, comprehensive reviews, or perspective articles that contribute to the advancement of knowledge in the field of cardiomyopathy. All submissions will undergo rigorous peer review to ensure scientific integrity and relevance to the theme of this Special Issue.

Dr. Emanuele Monda
Dr. Giuseppe Limongelli
Guest Editors

Manuscript Submission Information

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Keywords

  • cardiomyopathy
  • diagnosis
  • management
  • basic science
  • personalized therapy
  • myocardial disease
  • cardiovascular disease
  • congenital heart disease

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Published Papers (1 paper)

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Research

15 pages, 3313 KiB  
Article
Prevalence and Correlates of Anti-DSG2 Antibodies in Arrhythmogenic Right Ventricular Cardiomyopathy and Myocarditis: Immunological Insights from a Multicenter Study
by Andrea Silvio Giordani, Elena Pontara, Cristina Vicenzetto, Anna Baritussio, Maria Grazia Peloso Cattini, Elisa Bison, Federica Re, Renzo Marcolongo, Shaylyn Joseph, Diptendu Chatterjee, Meena Fatah, Robert M. Hamilton and Alida Linda Patrizia Caforio
J. Clin. Med. 2024, 13(22), 6736; https://doi.org/10.3390/jcm13226736 - 8 Nov 2024
Viewed by 559
Abstract
Background: Autoantibodies against Desmoglein-2 desmosomal protein (anti-DSG2-ab) were identified in Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) by Enzyme-Linked ImmunoSorbent Assay (ELISA); anti-intercalated disk autoantibodies (AIDAs) were identified in myocarditis and (ARVC) by indirect immunofluorescence (IFL). We aim to assess: (1) anti-DSG2-ab specificity in ARVC [...] Read more.
Background: Autoantibodies against Desmoglein-2 desmosomal protein (anti-DSG2-ab) were identified in Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) by Enzyme-Linked ImmunoSorbent Assay (ELISA); anti-intercalated disk autoantibodies (AIDAs) were identified in myocarditis and (ARVC) by indirect immunofluorescence (IFL). We aim to assess: (1) anti-DSG2-ab specificity in ARVC and myocarditis, (2) accuracy of anti-DSG2-ab detection by ELISA versus AIDA by IFL, and (3) clinical correlates of anti-DSG2-ab in ARVC. Methods: We included 77 patients with ARVC, 91 with myocarditis/dilated cardiomyopathy (DCM), 27 with systemic immune-mediated diseases, and 50 controls. Anti-heart antibodies (AHAs) and AIDAs were assessed by IFL, and anti-DSG2-ab by ELISA (assessed both by optical density, OD, and U/L). Receiving operator curve (ROC) analysis was used to assess ELISA diagnostic accuracy. Results: A relevant proportion (56%) of ARVC patients was anti-DSG2-ab-positive, with higher anti-DSG2-ab levels than controls. Anti-DSG2-ab titer was not different between ARVC and myocarditis/DCM patients (48% anti-DSG-ab positive). Frequency of anti-DSG2 positivity by ELISA was higher in AIDA-positive cases by IFL than AIDA-negative cases (p = 0.039 for OD, p = 0.023 for U/L). In ARVC, AIDA-positive patients were more likely to be AHA-positive (p < 0.001), had pre-syncope (p = 0.025), and abnormalities in cardiac rhythm (p = 0.03) than ARVC AIDA-negative patients, while anti-DSG2-ab positivity did not have clinical correlates. Conclusions: Anti-DG2-ab detection in ARVC and myocarditis/DCM reflects immune-mediated pathogenesis to desmosomal proteins. Higher frequency of anti-DSG2-ab positivity by ELISA by U/L was higher in AIDA-positive cases by IFL than AIDA-negative cases, in keeping with the hypothesis that DSG2 is one of AIDA autoantigens. In ARVC, AIDA status but not anti-DSG2-ab showed distinct clinical correlates, possibly reflecting a wider AIDA autoantigenic spectrum. Full article
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