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What’s New in Cardiomyopathies: Diagnosis, Treatment and Management
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What’s New in Cardiomyopathies: Diagnosis, Treatment and Management

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

Deadline for manuscript submissions: 30 November 2025 | Viewed by 5252

Special Issue Editor

Dr. Cinzia Forleo

E-Mail Website
Guest Editor
Cardiology Unit, Interdisciplinary Department of Medicine, University of Bari Aldo Moro, University Hospital Consortium Polyclinic of Bari, Piazza G. Cesare 11, 70124 Bari, Italy
Interests: cardiomyopathies; genetic cardiovascular diseases; rare cardiovascular diseases; heart failure; echocardiography; cardiac imaging; clinical cardiology

Special Issue Information

Dear Colleagues,

Cardiomyopathies are structural and functional heart muscle disorders that are not caused by coronary, valvular, hypertensive, or congenital heart disease. Inherited gene mutations often contribute to these conditions, suggesting that family members may also be at risk. This highlights that cardiomyopathies affect not just the individual but often entire families, and that family screening is needed to allow for early diagnosis and personalized treatment. Recent advancements in cardiovascular imaging, such as cardiac magnetic resonance, genetic testing, red flag research, and understanding the molecular basis of cardiomyopathies, have improved the identification and classification of these complex diseases. A novel cardiomyopathy phenotype, non-dilated left ventricular cardiomyopathy, has emerged. The use of innovative technologies, including artificial intelligence, holds significant potential for improving patient outcomes. In addition, disease-modifying therapies are revolutionizing treatment approaches. New biomarkers are also helping to identify at-risk patients and tailor treatments.

This Special Issue, entitled “What’s New in Cardiomyopathies: Diagnosis, Treatment and Management”, aims to provide an updated overview of cardiomyopathies through original research and systematic reviews. We aim to collate experts from different disciplines in a multidisciplinary setting to share their knowledge, experience, and the extraordinary advances that are changing the diagnosis, treatment, and management of these intricate heart conditions.

Dr. Cinzia Forleo
Guest Editor

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

  • cardiomyopathies
  • multimodality imaging
  • cardiac magnetic resonance
  • genetic testing
  • cardiogenetics
  • genetic cardiovascular disease
  • rare cardiovascular diseases

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Published Papers (3 papers)

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Review

27 pages, 4715 KiB  
Review
Sailing Across Contraception, Pregnancy, and Breastfeeding: The Complex Journey of Women with Cardiomyopathies
by Maria Cristina Carella, Vincenzo Ezio Santobuono, Francesca Maria Grosso, Marco Maria Dicorato, Paolo Basile, Ilaria Dentamaro, Maria Ludovica Naccarati, Daniela Santoro, Francesco Monitillo, Rosanna Valecce, Roberta Ruggieri, Aldo Agea, Martino Pepe, Gianluca Pontone, Antonella Vimercati, Ettore Cicinelli, Nicola Laforgia, Nicoletta Resta, Andrea Igoren Guaricci, Marco Matteo Ciccone and Cinzia Forleoadd Show full author list remove Hide full author list
J. Clin. Med. 2025, 14(14), 4977; https://doi.org/10.3390/jcm14144977 - 14 Jul 2025
Viewed by 123
Abstract
Gender-specific cardiology has gained increasing recognition in recent years, emphasizing the need for tailored management strategies for women with cardiovascular disease. Among these, cardiomyopathies—dilated, arrhythmogenic, hypertrophic, and restrictive—pose unique challenges throughout a woman’s reproductive life, affecting contraception choices, pregnancy outcomes, and breastfeeding feasibility. [...] Read more.
Gender-specific cardiology has gained increasing recognition in recent years, emphasizing the need for tailored management strategies for women with cardiovascular disease. Among these, cardiomyopathies—dilated, arrhythmogenic, hypertrophic, and restrictive—pose unique challenges throughout a woman’s reproductive life, affecting contraception choices, pregnancy outcomes, and breastfeeding feasibility. Despite significant advances in cardiovascular care, there is still limited guidance on balancing maternal safety and neonatal well-being in this complex setting. This review provides a comprehensive overview of the current evidence on reproductive counseling, pregnancy management, and postpartum considerations in women with cardiomyopathies. We discuss the cardiovascular risks associated with each cardiomyopathy subtype during pregnancy, highlighting risk stratification tools and emerging therapeutic strategies. Additionally, we address the safety and implications of breastfeeding, an often overlooked but increasingly relevant aspect of postpartum care. A multidisciplinary approach involving cardiologists, gynecologists, obstetricians, and anesthesiologists is crucial to optimizing maternal and fetal outcomes. Improved risk assessment, tailored patient counseling, and careful management strategies are essential to ensuring safer reproductive choices for women with cardiomyopathy. From now on, greater attention is expected to be given to bridging existing knowledge gaps, promoting a more personalized and evidence-based approach to managing these patients throughout different stages of reproductive life. Full article
(This article belongs to the Special Issue What’s New in Cardiomyopathies: Diagnosis, Treatment and Management)
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20 pages, 1641 KiB  
Review
Hypertrophic Cardiomyopathy and Phenocopies: New Therapies for Old Diseases—Current Evidence and Future Perspectives
by Maria Alfarano, Federico Ciccarelli, Giulia Marchionni, Federico Ballatore, Jacopo Costantino, Antonio Lattanzio, Giulia Pecci, Silvia Stavagna, Leonardo Iannelli, Gioacchino Galardo, Carlo Lavalle, Fabio Miraldi, Carmine Dario Vizza and Cristina Chimenti
J. Clin. Med. 2025, 14(12), 4228; https://doi.org/10.3390/jcm14124228 - 13 Jun 2025
Viewed by 548
Abstract
The hypertrophic cardiomyopathy (HCM) clinical phenotype includes sarcomeric HCM, which is the most common form of inherited cardiomyopathy with a population prevalence of 1:500, and phenocopies such as cardiac amyloidosis and Anderson–Fabry disease, which are considered rare diseases. Identification of cardiac and non-cardiac [...] Read more.
The hypertrophic cardiomyopathy (HCM) clinical phenotype includes sarcomeric HCM, which is the most common form of inherited cardiomyopathy with a population prevalence of 1:500, and phenocopies such as cardiac amyloidosis and Anderson–Fabry disease, which are considered rare diseases. Identification of cardiac and non-cardiac red flags in the context of multi-organ syndrome, multimodality imaging, including echocardiography, cardiac magnetic resonance, and genetic testing, has a central role in the diagnostic pathway. Identifying the specific disease underlying the hypertrophic phenotype is very important since many disease-modifying therapies are currently available, and phase 3 trials for new treatments have been completed or are ongoing. In particular, many chemotherapy agents (alkylating agents, proteasome inhibitors, immunomodulatory drugs, and monoclonal antibodies targeting clonal cells) allowing one to treat AL amyloidosis, transthyretin stabilizers (tafamidis and acoramidis), and gene silencers (patisiran and vutrisiran) are available in transthyretin cardiac amyloidosis, and enzyme replacement therapies (agalsidase-alpha, agalsidase-beta, and pegunigalsidase-alpha) or oral chaperone therapy (migalastat) can be used in Anderson–Fabry disease. In addition, the introduction of cardiac myosin inhibitors (mavacamten and aficamten) has deeply modified the treatment of hypertrophic obstructive cardiomyopathy. The aim of this review is to describe the new disease-modifying treatments available in HCM and phenocopies in light of current scientific evidence. Full article
(This article belongs to the Special Issue What’s New in Cardiomyopathies: Diagnosis, Treatment and Management)
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Graphical abstract

15 pages, 1280 KiB  
Review
Now and the Future: Medications Changing the Landscape of Cardiovascular Disease and Heart Failure Management
by Thomas Oswald, Steven Coombs, Susan Ellery and Alexander Liu
J. Clin. Med. 2025, 14(11), 3948; https://doi.org/10.3390/jcm14113948 - 3 Jun 2025
Viewed by 4175
Abstract
Cardiovascular diseases (CVDs) remain the leading cause of morbidity and mortality worldwide. Epidemiological data demonstrate that the overlap between CVD, Type 2 Diabetes (T2DM), chronic kidney disease (CKD) and heart failure (HF) is becoming increasingly apparent, with aging populations making these patient cohorts [...] Read more.
Cardiovascular diseases (CVDs) remain the leading cause of morbidity and mortality worldwide. Epidemiological data demonstrate that the overlap between CVD, Type 2 Diabetes (T2DM), chronic kidney disease (CKD) and heart failure (HF) is becoming increasingly apparent, with aging populations making these patient cohorts more difficult to treat. In the last decade, three standout drug classes have emerged with the potential to broaden the treatment options for patients with multi-morbid CVD and heart failure. These are sodium–glucose cotransporter 2 (SGLT2) inhibitors, non-steroidal mineralocorticoid receptor antagonists (MRAs), e.g., Finerenone, and glucagon-like peptide 1 receptor agonists (GLP-1RAs). These medications are now entering UK and European guidelines for the treatment of CVDs including HF whilst crucially providing associated prognostic benefits for patients with T2DM and CKD. The future of these agents for CVD risk stratification may involve primary care at the forefront, alongside tailored, patient-specific medication regimens. This review article aims to discuss these three main drug classes (SGLT2 inhibitors, GLP-1RAs and non-steroidal MRAs) in detail by exploring their current evidence base across heart failure (HF) and CVD management and future clinical implications of their usage as mainstream medical therapies. Full article
(This article belongs to the Special Issue What’s New in Cardiomyopathies: Diagnosis, Treatment and Management)
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