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Advancements in Cardiomyopathies: Diagnosis, Treatment and Management—2nd Edition
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Advancements in Cardiomyopathies: Diagnosis, Treatment and Management—2nd Edition

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

Deadline for manuscript submissions: 24 August 2026 | Viewed by 11639

Editors

Dr. Cinzia Forleo

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Guest Editor
University Cardiology Unit, Interdisciplinary Department of Medicine, “Aldo Moro” University School of Medicine, Polyclinic University Hospital, Bari, Italy
Interests: cardiomyopathies; cardiac multimodality imaging; cardiac echocardiography; amyloidosis; fabry disease; hypertrophic cardiomyopathy; arrhythmias; heart failure; brugada syndrome; long QT syndrome; rare cardiovascular diseases; cardiogenetics
Special Issues, Collections and Topics in MDPI journals
Dr. Maria Cristina Carella

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Guest Editor Assistant
Cardiology Unit, Interdisciplinary Department of Medicine (DIM), University of Bari Aldo Moro, University Hospital Consortium, Polyclinic of Bari, Piazza G. Cesare 11, 70124 Bari, Italy
Interests: cardiomyopathies; cardiac echocardiography; amyloidosis; Anderson-Fabry disease; hypertrophic cardiomyopathy; dilated cardiomyopathy; laminopathies; heart failure; myocarditis; autoimmune cardiac diseases; pregnancy and cardiovascular diseases; cardiovascular genetics; inherited arrhythmia syndromes

Special Issue Information

Dear Colleagues,

It is our pleasure to warmly invite you to contribute to the second volume of the Special Issue entitled “Advancements in Cardiomyopathies: Diagnosis, Treatment and Management—2nd Edition”.

Considering the great interest generated by the first edition, where six high-quality papers were published, offering valuable insights into the evolving field of cardiomyopathies, this second edition aims to broaden and deepen scientific conversation. It will do so by collecting innovative research, cutting-edge diagnostic approaches, advances in genetic characterization, and emerging therapeutic strategies. This second volume represents an opportunity to highlight the rapid progress in cardiomyopathy research and promote interdisciplinary dialogue. It also aims to provide clinicians and researchers with updated perspectives that can support precision medicine and improve patient care.

For more details on the first volume, please visit the following link:

https://www.mdpi.com/journal/jcm/special_issues/Q52968DNH5.

Cardiomyopathies encompass a heterogeneous group of structural and functional disorders of the heart muscle that are not explained by coronary, valvular, hypertensive, or congenital disease. Genetic variants play a central role in many of these conditions, underscoring the importance of recognizing cardiomyopathies as familial diseases that can affect multiple generations. This perspective highlights the value of family screening, which enables early detection, refined risk stratification, and timely, individualized therapy.

In recent years, extraordinary progress has reshaped our understanding of cardiomyopathies. Advanced cardiovascular imaging, particularly cardiac magnetic resonance, has transformed diagnostic accuracy and phenotyping. Next-generation sequencing and precision-genetics approaches now allow clinicians to uncover pathogenic variants and decode complex genotype–phenotype relationships. Heightened attention to clinical red flags and the molecular mechanisms underpinning disease has further refined classification schemes. Notably, the recognition of non-dilated left ventricular cardiomyopathy as a distinct entity illustrates how rapidly the field is evolving.

At the same time, innovative technologies such as artificial intelligence promise to enhance diagnostic workflows and predictive modelling, while emerging disease-modifying therapies are shifting treatment paradigms across multiple cardiomyopathy subtypes. Novel biomarkers are also enabling earlier identification of high-risk patients and more tailored therapeutic strategies.

This Special Issue, entitled "Advancements in Cardiomyopathies: Diagnosis, Treatment and Management—2nd Edition," aims to deliver a comprehensive and up-to-date overview of these rapidly evolving themes. By gathering contributions from experts across diverse disciplines, we hope to foster a truly multidisciplinary dialogue and highlight the scientific and clinical advances that are redefining the diagnosis, management, and long-term care of patients with cardiomyopathies.

Dr. Cinzia Forleo
Guest Editor

Dr. Maria Cristina Carella
Guest Editor Assistant

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 250 words) can be sent to the Editorial Office for assessment.

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-anonymized 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

  • cardiomyopathies
  • multimodality imaging
  • cardiac magnetic resonance
  • genetic testing
  • cardiogenetics
  • genetic cardiovascular disease
  • rare cardiovascular diseases
  • risk stratification
  • genotype–phenotype correlations
  • rare variant interpretation
  • arrhythmias

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Related Special Issue

Published Papers (5 papers)

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Research

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15 pages, 1902 KB  
Article
Longitudinal Adipokine and Lipid Profiles in Fabry Disease
by Constantin Gatterer, Daniela Allmer, Dietrich Beitzke, Senta Graf, Philipp Hohensinner, Markus Ponleitner, Eva Steinacher, Alice Schmidt, Gere Sunder-Plassmann, Paulus Rommer and Max Lenz
J. Clin. Med. 2026, 15(6), 2390; https://doi.org/10.3390/jcm15062390 - 20 Mar 2026
Viewed by 768
Abstract
Background/Objectives: Fabry disease (FD) is a lysosomal storage disorder characterized by progressive renal and cardiac involvement and an increased burden of cardiovascular and cerebrovascular events. While cardiac magnetic resonance imaging (CMR) has significantly advanced structural assessment, circulating biomarkers reflecting disease-related cardiac manifestations remain [...] Read more.
Background/Objectives: Fabry disease (FD) is a lysosomal storage disorder characterized by progressive renal and cardiac involvement and an increased burden of cardiovascular and cerebrovascular events. While cardiac magnetic resonance imaging (CMR) has significantly advanced structural assessment, circulating biomarkers reflecting disease-related cardiac manifestations remain incompletely understood. We therefore investigated adiponectin and leptin, two adipokines involved in inflammatory, metabolic, and fibrotic pathways, in relation to cardiac involvement and analyzed long-term lipid trajectories in FD. Methods: This longitudinal observational study included 49 patients with FD with 149 study visits. Circulating adiponectin, leptin, NT-proBNP, and conventional lipid parameters were assessed longitudinally and stratified by FD-specific therapy status and sex. Multivariable linear regression was performed to evaluate independent associations with log-transformed NT-proBNP values. Results: Adiponectin was positively associated with NT-proBNP, reflecting cardiac involvement, independent of age, sex, BMI, and eGFR (p < 0.001). Higher adiponectin levels were observed in patients with left ventricular hypertrophy or low T1 and those with fibrosis, detected by CMR (p = 0.009 and p < 0.001, respectively). This association was mainly seen in patients receiving FD-specific therapy, raising the question of whether this reflects underlying organ involvement or treatment effects. Leptin demonstrated weaker, inverse associations. Adiponectin, leptin, Triglycerides, total cholesterol, and HDL- and LDL-cholesterol levels remained stable over long-term follow-up, irrespective of FD-specific therapy or sex. Conclusions: In FD, adiponectin appears to be associated with cardiac involvement, and conventional lipid parameters remained unchanged over time. These findings suggest that alterations in adipokines, rather than progressive dyslipidemia, may reflect disease-related cardiac manifestations. Full article
(This article belongs to the Special Issue Advancements in Cardiomyopathies: Diagnosis, Treatment and Management—2nd Edition)
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12 pages, 406 KB  
Article
Temporal Variability of ECG Risk Markers and Clinical Outcomes in Non-Dilated Left Ventricular Cardiomyopathy
by Nikias Milaras, Konstantinos Pamporis, Konstantinos A. Gatzoulis, Paschalis Karakasis, Panagiotis Kostakis, Zoi Sotiriou, Anastasia Xintarakou, Ageliki Laina, Dimitrios Karelas, Dimitrios Vlachomitros, Iosif Xenogiannis, Stefanos Archontakis, Charalampos Vlachopoulos, Konstantinos Toutouzas, Konstantinos Tsioufis and Skevos Sideris
J. Clin. Med. 2026, 15(2), 402; https://doi.org/10.3390/jcm15020402 - 6 Jan 2026
Cited by 2 | Viewed by 990
Abstract
Background/Objectives: Non-dilated left ventricular cardiomyopathy (NDLVC) is a recently defined clinical entity associated with increased risk of ventricular arrhythmias (VA) and sudden cardiac death (SCD), despite preserved LV geometry. The role and temporal variability of noninvasive electrocardiographic (ECG) risk markers in this [...] Read more.
Background/Objectives: Non-dilated left ventricular cardiomyopathy (NDLVC) is a recently defined clinical entity associated with increased risk of ventricular arrhythmias (VA) and sudden cardiac death (SCD), despite preserved LV geometry. The role and temporal variability of noninvasive electrocardiographic (ECG) risk markers in this population remain insufficiently characterized. To assess the temporal variability of ECG-derived risk markers in patients with NDLVC and explore their association with major adverse cardiac events, including heart failure (HF) and VA hospitalization. Methods: We prospectively studied 55 patients with NDLVC who underwent cardiac magnetic resonance imaging and serial 24 h Holter monitoring, signal-averaged ECG, and standard 12-lead ECG over a one-year period. Patients were followed up for 39.5 ± 8.6 months. Nine ECG-based risk markers were analyzed, including premature ventricular contraction (PVC) burden, non-sustained ventricular tachycardia (NSVT) occurrence, its maximum rate and maximum beats, mean QTc interval, standard deviation of NN intervals (SDNN), deceleration capacity (DC), heart rate turbulence onset and slope (TO/TS), T-wave alternans (TWA), and late potentials. Clinical outcomes were HF and VA hospitalization. Logistic regression was used to evaluate associations between changes in ECG parameters and outcomes. Results: A change (from positive to negative and vice versa) in at least one ECG parameter was detected in 67.3% of patients, with the highest variability observed in TWA (34.5%), NSVT (23.6%), and PVC burden (23.6%). Despite this variability, only SDNN was significantly associated with increased risk of VA hospitalization during follow-up (OR = 0.98, 95% CI: 0.97–0.99, p = 0.006). No ECG changes were associated with HF hospitalization. Conclusions: Patients with NDLVC exhibit substantial temporal variability in noninvasive ECG risk markers. While most changes do not correlate with clinical events, an inverse association was found between SDNN and VA risk. These findings support the ongoing evaluation and the necessity to identify more effective risk stratification markers in this subgroup of patients. Full article
(This article belongs to the Special Issue Advancements in Cardiomyopathies: Diagnosis, Treatment and Management—2nd Edition)
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Review

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22 pages, 5994 KB  
Review
Revisiting the Genetics of Hypertrophic Cardiomyopathy: From Sarcomeres to Polygenic Modulation and Clinical Translation
by Maria Cristina Carella, Marco Maria Dicorato, Paolo Basile, Ilaria Dentamaro, Daniela Santoro, Eugenio Carulli, Michele Davide Latorre, Eduardo Urgesi, Francesco Monitillo, Nicoletta Resta, Gianluca Pontone, Marco Matteo Ciccone, Andrea Igoren Guaricci and Cinzia Forleo
J. Clin. Med. 2026, 15(6), 2327; https://doi.org/10.3390/jcm15062327 - 18 Mar 2026
Cited by 1 | Viewed by 2212
Abstract
Hypertrophic cardiomyopathy (HCM), the most common inherited cardiomyopathy, represents a paradigmatic condition for precision cardiovascular medicine. Once regarded as a monogenic autosomal dominant disorder driven by rare sarcomeric variants, HCM is now recognized as a genetically complex disease characterized by incomplete penetrance, variable [...] Read more.
Hypertrophic cardiomyopathy (HCM), the most common inherited cardiomyopathy, represents a paradigmatic condition for precision cardiovascular medicine. Once regarded as a monogenic autosomal dominant disorder driven by rare sarcomeric variants, HCM is now recognized as a genetically complex disease characterized by incomplete penetrance, variable expressivity, and heterogeneous clinical trajectories. This review summarizes current evidence on the evolving genetic architecture of HCM, emphasizing the predominant role of definitively validated sarcomeric genes, particularly MYBPC3 and MYH7, and the clinical value of gene panel expansion. Phenotypic variability reflects interactions among variant classes, gene-specific mechanisms, and modifying factors. Differences between missense and truncating variants, haploinsufficiency and poison-peptide effects, allelic imbalance, and age-dependent penetrance contribute to diverse disease expression. Emerging data further support oligogenic inheritance and polygenic modulation, with genome-wide association studies and polygenic risk scores elucidating their contribution to disease susceptibility and variability, especially in genotype-negative patients and carriers of rare variants. We also address genes with emerging evidence and underrecognized pathogenic mechanisms, including deep intronic and splice-altering variants that may explain part of the missing heritability. The importance of distinguishing phenocopies is highlighted, advocating for phenotype-anchored diagnostic pathways integrating clinical assessment, multimodality imaging, and targeted genetic testing. Overall, contemporary data support a targeted, gene-validity-driven approach to genetic testing, where molecular findings primarily inform diagnosis and cascade screening, while risk stratification remains phenotype-led and longitudinal. Future progress will depend on integrative models combining rare variants, polygenic background, imaging, and biomarkers to translate genetic complexity into actionable precision care. Full article
(This article belongs to the Special Issue Advancements in Cardiomyopathies: Diagnosis, Treatment and Management—2nd Edition)
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14 pages, 752 KB  
Review
Modulation of the Vasopressin System in Distributive and Cardiogenic Shock: Theoretical Principles and Practical Applications
by Alfredo Mauriello, Adriana Correra, Anna Chiara Maratea, Valeria Cetoretta, Francesco Giallauria, Giovanni Esposito, Alfonso Desiderio, Gemma Marrazzo, Biagio Liccardo, Vincenzo Russo, Paolo Trambaiolo and Antonello D’Andrea
J. Clin. Med. 2026, 15(5), 1953; https://doi.org/10.3390/jcm15051953 - 4 Mar 2026
Cited by 2 | Viewed by 3286
Abstract
Vasodilatory shock, primarily driven by sepsis, remains a leading cause of mortality in intensive care units (ICU), with mortality rates exceeding 90% in refractory cases. While norepinephrine is the first-line vasopressor, prolonged exposure to high doses of catecholamines is linked to severe adverse [...] Read more.
Vasodilatory shock, primarily driven by sepsis, remains a leading cause of mortality in intensive care units (ICU), with mortality rates exceeding 90% in refractory cases. While norepinephrine is the first-line vasopressor, prolonged exposure to high doses of catecholamines is linked to severe adverse effects, including myocardial toxicity, arrhythmias, and immunodepression. Consequently, the concept of decatecholaminization, utilizing non-adrenergic vasopressors to reduce catecholamine burden, has emerged as a critical therapeutic strategy. This comprehensive review aims to define the current role of vasopressin and its analogues, terlipressin and selepressin, in managing patients with circulatory shock, evaluating their physiological rationale, clinical benefits, and adverse event profiles. The vasopressin system provides a multimodal approach to hemodynamic stability independent of α-adrenergic stimulation. Arginine vasopressin (AVP) acts on V1a receptors to induce vasoconstriction and improve glomerular filtration, and on V2 receptors for water reabsorption. Clinical trials indicate that while AVP may not reduce overall mortality, it significantly reduces the need for renal replacement therapy (RRT) and offers survival benefits in the less severe shock subgroup. Synthetic analogues like terlipressin offer a longer half-life but carry an increased risk of peripheral ischemia. Conversely, selepressin, a pure V1a agonist, was designed to mitigate fluid retention and edema, though recent trials have not yet demonstrated superior clinical outcomes over placebo. Modulation of the vasopressin system is a cornerstone of decatecholaminization in distributive and cardiogenic shock. Although a universal mortality benefit has not been established, these agents are crucial for protecting renal function, reducing catecholamine toxicity, and lowering the incidence of arrhythmias. Future strategies should focus on precision medicine, utilizing biomarkers like copeptin and artificial intelligence to optimize the timing and selection of multimodal vasopressor therapy. Full article
(This article belongs to the Special Issue Advancements in Cardiomyopathies: Diagnosis, Treatment and Management—2nd Edition)
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19 pages, 1068 KB  
Review
Immune Checkpoint Inhibitor-Associated Myocarditis: Risk, Diagnosis, and Clinical Impact
by Alfredo Mauriello, Adriana Correra, Anna Chiara Maratea, Valeria Cetoretta, Giovanni Benfari, Federica Ilardi, Rosangela Cocchia, Matteo Lisi, Alessandro Malagoli, Giulia Elena Mandoli, Maria Concetta Pastore, Simona Sperlongano, Vincenzo Russo, Matteo Cameli and Antonello D’Andrea
J. Clin. Med. 2026, 15(2), 814; https://doi.org/10.3390/jcm15020814 - 19 Jan 2026
Cited by 7 | Viewed by 3954
Abstract
Background: Immune checkpoint inhibitors (ICIs), such as anti-programmed death (PD)-1 and anti-cytotoxic T-lymphocyte-associated protein (CTLA)-4 agents, have revolutionized oncology but are associated with immune-related adverse events (irAEs). Among these, ICI-associated myocarditis (ICI-M) is a rare but life-threatening complication, with mortality rates ranging from [...] Read more.
Background: Immune checkpoint inhibitors (ICIs), such as anti-programmed death (PD)-1 and anti-cytotoxic T-lymphocyte-associated protein (CTLA)-4 agents, have revolutionized oncology but are associated with immune-related adverse events (irAEs). Among these, ICI-associated myocarditis (ICI-M) is a rare but life-threatening complication, with mortality rates ranging from 27% to 50%. Objective: This narrative review summarizes the pathogenesis, epidemiology, clinical presentation, diagnostic methods, and management strategies for ICI-induced myocarditis, specifically highlighting emerging biomarkers and immunosuppressive therapeutic approaches. Results and Discussion: ICI-M typically presents within the first 65 days of treatment and is significantly more frequent with combination therapies. Pathologically, it is characterized by myocyte necrosis and massive infiltration of cluster of differentiation (CD)4+ and CD8+ T-cells, often overlapping with myositis (irM/M). Diagnosis relies on a multimodal approach. Management requires immediate ICI cessation and initiation of high-dose corticosteroids as first-line therapy. For steroid-refractory cases, second-line options include mycophenolate mofetil (MMF), intravenous immunoglobulin (IVIG), and emerging therapies like abatacept and ruxolitinib. Rechallenge with ICIs after high-grade ICI-M must be approached with extreme caution by the multidisciplinary team (MDT). Emerging biomarkers and omics techniques hold promise for earlier diagnosis and risk stratification. Conclusions: ICI-M is a rare yet highly lethal cardiac complication demanding high clinical vigilance and timely diagnosis. Management hinges on an aggressive multidisciplinary approach, aiming to minimize toxicity while balancing oncological efficacy. Full article
(This article belongs to the Special Issue Advancements in Cardiomyopathies: Diagnosis, Treatment and Management—2nd Edition)
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