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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: closed (31 December 2024) | Viewed by 3132

Special Issue Editors

Dr. Emanuele Monda

E-Mail Website
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
Dr. Giuseppe Limongelli

E-Mail Website
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

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

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

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Further information on MDPI's Special Issue polices can be found here.

Published Papers (4 papers)

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Research

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11 pages, 465 KiB  
Article
Clinical Features and Prospective Outcomes of Thin-Filament Hypertrophic Cardiomyopathy: Intrinsic Data and Comparative Insights from Other Cohorts
by Olga S. Chumakova, Tatiana N. Baklanova and Dmitry A. Zateyshchikov
J. Clin. Med. 2025, 14(3), 866; https://doi.org/10.3390/jcm14030866 - 28 Jan 2025
Viewed by 357
Abstract
Background/Objectives: Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease. The most frequently mutated genes encode proteins of the thick filament of the sarcomere, while mutations in thin-filament genes are rare findings in HCM cohorts. Recent studies have revealed distinct mechanisms [...] Read more.
Background/Objectives: Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease. The most frequently mutated genes encode proteins of the thick filament of the sarcomere, while mutations in thin-filament genes are rare findings in HCM cohorts. Recent studies have revealed distinct mechanisms of disease development linked to thin-filament mutations, highlighting the need for further investigation into this rare subgroup. Methods: A total of 82 adult patients with sarcomere-positive HCM were enrolled. Baseline characteristics and nearly five years of follow-up data from 15 patients with thin-filament mutations were analyzed and compared with those from 67 patients with thick-filament mutations and findings from other studies. Results: Compared to thick-filament HCM patients, individuals with thin-filament mutations exhibited significantly lower maximum left ventricular wall thickness, as measured by both echocardiography (p = 0.024) and cardiac magnetic resonance (p = 0.006), showed more rapid progression to advanced heart failure (HR = 5.6, p = 0.018), and less often underwent septal reduction therapy (p = 0.025). None of the thin-filament HCM patients experienced malignant arrhythmic events. Conclusions: In adults, thin-filament HCM is associated with a ‘thinner’ phenotype and a more rapid progression to advanced heart failure compared to thick-filament HCM. Data on a higher risk of malignant arrhythmias in thin-filament HCM remain controversial between studies and rather depend on the age of onset and genotype in each particular family. Full article
(This article belongs to the Special Issue Advancements in Diagnosis and Management of Cardiomyopathies: Bridging Basic Science to Personalized Therapy)
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18 pages, 2192 KiB  
Article
Association Between Lower Limb Strength Asymmetry and Gait Asymmetry: Implications for Gait Variability in Stroke Survivors
by Yungon Lee, Gi Beom Kim and Sunghoon Shin
J. Clin. Med. 2025, 14(2), 380; https://doi.org/10.3390/jcm14020380 - 9 Jan 2025
Viewed by 570
Abstract
Background: Gait disturbances characterized by asymmetries in lower limb strength and gait patterns are frequently observed in stroke patients, which increases gait variability and fall risk. However, the extent to which lower limb strength asymmetry influences gait asymmetry and variability in this [...] Read more.
Background: Gait disturbances characterized by asymmetries in lower limb strength and gait patterns are frequently observed in stroke patients, which increases gait variability and fall risk. However, the extent to which lower limb strength asymmetry influences gait asymmetry and variability in this population remains unclear. Methods: This cross-sectional study included 84 participants, comprising stroke survivors and age- and sex-matched healthy older adults. A portable dynamometer was used to assess lower limb strength, and inertial measurement units to analyze gait parameters. Asymmetry indices were used to quantify strength and gait asymmetries. Statistical analyses included Pearson correlations and stepwise regression to examine the relationships among lower limb strength asymmetry, gait asymmetry, and gait variability. Results: Stroke survivors exhibited significantly greater lower limb strength and gait asymmetries than healthy older adults (p < 0.001). Knee extension (KE) strength asymmetry was a significant predictor of increased gait variability in stroke survivors (R2 = 0.448, p < 0.001) but not in healthy controls. Moreover, longer poststroke duration was associated with greater asymmetry in KE strength (r = 0.42, p < 0.05) and double support time (r = 0.45, p < 0.05). Conclusions: Lower limb strength asymmetry, specifically in knee extensors, is a critical determinant of gait asymmetry and variability in stroke survivors. The association between poststroke duration and increased asymmetry indicates the progressive nature of these impairments. These findings emphasize the importance of targeted interventions to reduce strength asymmetry and address chronic impairments in poststroke rehabilitation to improve gait stability and reduce fall risk. Full article
(This article belongs to the Special Issue Advancements in Diagnosis and Management of Cardiomyopathies: Bridging Basic Science to Personalized Therapy)
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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
Cited by 1 | Viewed by 905
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
(This article belongs to the Special Issue Advancements in Diagnosis and Management of Cardiomyopathies: Bridging Basic Science to Personalized Therapy)
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Review

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15 pages, 1192 KiB  
Review
Specificities of Myocardial Infarction and Heart Failure in Women
by Milica Dekleva, Ana Djordjevic, Stefan Zivkovic and Jelena Suzic Lazic
J. Clin. Med. 2024, 13(23), 7319; https://doi.org/10.3390/jcm13237319 - 2 Dec 2024
Viewed by 848
Abstract
Substantial evidence from previous clinical studies, randomized trials, and patient registries confirms the existence of significant differences in cardiac morphology, pathophysiology, prevalence of specific coronary artery disease (CAD), and clinical course of myocardial infarction (MI) between men and women. The aim of this [...] Read more.
Substantial evidence from previous clinical studies, randomized trials, and patient registries confirms the existence of significant differences in cardiac morphology, pathophysiology, prevalence of specific coronary artery disease (CAD), and clinical course of myocardial infarction (MI) between men and women. The aim of this review is to investigate the impact of sex or gender on the development and clinical course of MI, the mechanisms and features of left ventricular (LV) remodeling, and heart failure (HF). The main sex-related difference in post-MI LV remodeling is adverse LV dilatation in males versus concentric LV remodeling or concentric LV hypertrophy in females. In addition, women have a higher incidence of microvascular dysfunction, which manifests as impaired coronary flow reserve, distal embolism, and a higher prevalence of the no-reflow phenomenon. Consequently, impaired myocardial perfusion after MI is more common in women than in men. Regardless of age or other comorbidities, the incidence of reinfarction, hospitalization for HF, and mortality is significantly higher in females. There is therefore a “sex paradox”: despite the lower prevalence of obstructive CAD and HF with reduced ejection fraction (HFrEF), women have a higher mortality rate after MI. Different characteristics of the coronary network, such as plaque formation, microvascular dysfunction, and endothelial inflammation, as well as the prolonged time to optimal coronary flow restoration, secondary mitral regurgitation, and pulmonary vascular dysfunction, lead to a worse outcome in females. A better understanding of the mechanisms responsible for MI occurrence, LV remodeling, and HF in men and women would contribute to optimized patient therapy that would benefit both sexes. Full article
(This article belongs to the Special Issue Advancements in Diagnosis and Management of Cardiomyopathies: Bridging Basic Science to Personalized Therapy)
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