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Perspectives on the Diagnosis and Treatment of Cardiomyopathies

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

Deadline for manuscript submissions: 20 September 2026 | Viewed by 5850

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Dr. Luca Arcari

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Cardiology Unit, Madre Giuseppina Vannini Hospital, Rome, Italy
Interests: takotsubo syndrome; cardiomyopathy; cardiac magnetic resonance; cardiovascular imaging
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Special Issue Information

Dear Colleagues,

Cardiomyopathies represent a diverse group of myocardial disorders that pose significant diagnostic and therapeutic challenges. Recent advances in imaging technologies, molecular diagnostics, and pharmacological therapies are transforming the clinical landscape, offering new opportunities for precision medicine in this field.

This Special Issue invites original research articles, reviews, and clinical perspectives that explore emerging tools and strategies to improve the care of patients with cardiomyopathy.

We are particularly interested in contributions addressing the following themes:

Cardiac Imaging: The expanding role of advanced imaging modalities—including echocardiography, cardiac magnetic resonance, computed tomography and nucear imaging—in the early detection and accurate phenotyping of cardiomyopathies.
Genetic Testing: The integration of genomic insights into clinical practice, including the role of next-generation sequencing and polygenic risk scores in refining diagnosis and guiding family screening.
Novel Pharmacological Therapies: Innovations in drug development for specific cardiomyopathy subtypes, including myosin inhibitors, gene-targeted therapies, and disease-modifying agents that reflect a shift toward a mechanism-based treatment.

This Special Ossue aims to provide a comprehensive overview of contemporary approaches to diagnosing and treating cardiomyopathies, bridging the gap between research and clinical application.

Dr. Luca Arcari
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 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
hypertrophic cardiomyopathy
dilated cardiomyopathy
cardiac amyloidosis
arrhythmogenic right ventricular cardiomyopathy
non-dilated left ventricular cardiomyopathy
cardiac magnetic resonance imaging
computed tomography
echocardiography
nuclear imaging

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Published Papers (5 papers)

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Research

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12 pages, 1073 KB

Open AccessArticle

Serum Transthyretin as a Prognostic and Therapeutic Biomarker in Transthyretin Amyloid Cardiomyopathy Patients Treated with Tafamidis

by Jacopo Costantino, Federico Ballatore, Giulia Marchionni, Maria Alfarano, Silvia Stavagna, Samuel Costantino, Carmine Dario Vizza and Cristina Chimenti

J. Clin. Med. 2026, 15(9), 3355; https://doi.org/10.3390/jcm15093355 - 28 Apr 2026

Viewed by 445

Abstract

Background: The clinical significance of circulating serum transthyretin (sTTR) levels in patients with transthyretin amyloid cardiomyopathy (ATTR-CM) remains incompletely defined, particularly in patients treated with tafamidis in real-world clinical practice. We aimed to evaluate the relationship between sTTR levels, disease severity, longitudinal changes during tafamidis therapy, and clinical outcomes. Methods: We conducted a retrospective, exploratory study based on prospectively collected data, including consecutive patients with ATTR-CM initiating tafamidis therapy at a tertiary referral center. sTTR levels were measured at baseline and after six months. Associations between sTTR, markers of disease severity, functional status, and outcomes were assessed. Cox regression, receiver operating characteristic (ROC) analysis, and Kaplan–Meier survival analysis were performed. Results: A total of 107 patients (mean age 79.6 ± 8.5 years, 84 males) were enrolled and followed for 24 ± 6 months. Tafamidis therapy was associated with a significant increase in sTTR levels at six months (from 24.7 ± 8.8 to 36.9 ± 6.4 mg/dL; p = 0.006). Baseline sTTR levels were inversely correlated with NT-proBNP (ρ = –0.349; p = 0.037) and were significantly lower in non-survivors compared with survivors (14.2 ± 3.1 vs. 23.5 ± 5.2 mg/dL; p < 0.001). Each 1 mg/dL increase in baseline sTTR was associated with a 13% reduction in all-cause mortality risk (HR 0.87, 95% CI 0.83–0.91; p < 0.001). A baseline sTTR cut-off of 20 mg/dL was associated with an increased risk of mortality (AUC 0.85), and patients with sTTR < 20 mg/dL showed significantly reduced survival. Higher on-treatment sTTR levels at six months were associated with better functional capacity (r = 0.52; p = 0.009) and, when >26 mg/dL, with lower observed mortality during follow-up. Conclusions: In a real-world cohort of patients with ATTR-CM treated with tafamidis, serum transthyretin levels were associated with disease severity, functional status, and survival. Baseline and early on-treatment sTTR measurements may represent useful biomarkers for risk stratification and treatment monitoring. Full article

(This article belongs to the Special Issue Perspectives on the Diagnosis and Treatment of Cardiomyopathies)

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Review

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28 pages, 1675 KB

Open AccessReview

Cardiac Involvement in Emery–Dreifuss Muscular Dystrophy, from Arrhythmias to Heart Failure and Sudden Death: A Contemporary Review

by Lucio Giuseppe Granata, Maria Claudia Lo Nigro, Fabiana Cipolla, Nicola Ferrara, Anna Rosa Napoli, Marcello Marchetta, Simona Giubilato, Pasquale Crea, Giuseppe Dattilo, Olimpia Trio, Giuseppe Andò, Cesare de Gregorio and Giuseppina Maura Francese

J. Clin. Med. 2026, 15(9), 3286; https://doi.org/10.3390/jcm15093286 - 25 Apr 2026

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Abstract

Emery–Dreifuss muscular dystrophy (EDMD) is a rare inherited neuromuscular disorder within the spectrum of nuclear envelope diseases, classically characterized by early musculo-tendinous contractures, slowly progressive myopathy, and cardiac involvement dominated by conduction disease and arrhythmias, with variable evolution toward cardiomyopathy and heart failure. This narrative review provides a comprehensive and clinically actionable synthesis of cardiovascular manifestations across EDMD genotypes and phenotypes, outlining pragmatic diagnostic and therapeutic pathways for real-world care. A targeted literature search was performed in PubMed, Embase, and Web of Science, focusing on studies addressing cardiovascular involvement in EDMD. Relevant original studies, case series, registries, guideline documents, and high-quality reviews were selected and synthesized narratively, with particular emphasis on diagnostic strategies, risk stratification, and management approaches. Cardiac involvement in EDMD encompasses a broad and heterogeneous spectrum, including atrial disease and conduction disturbances, ventricular arrhythmias, dilated cardiomyopathy, thromboembolic complications, and sudden cardiac death. Phenotypic expression varies according to the underlying genetic substrate, with distinct atrial- and ventricular-dominant trajectories. Early recognition and structured cardiovascular surveillance are essential to guide timely intervention, including anticoagulation, device therapy, and heart failure management. Despite growing awareness, significant gaps remain in risk prediction and standardized management strategies. EDMD represents a paradigmatic model of cardiomyopathy characterized by prominent electrical instability and systemic involvement. A structured, genotype- and phenotype-informed approach centered on early surveillance, proactive arrhythmia and thromboembolic risk management and timely device therapy may improve clinical decision-making in real-world settings. Future perspectives include the integration of precision medicine and the development of gene- and pathway-targeted therapies, with the potential to shift from symptomatic management toward disease-modifying strategies. Full article

(This article belongs to the Special Issue Perspectives on the Diagnosis and Treatment of Cardiomyopathies)

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17 pages, 1885 KB

Open AccessReview

Non-Invasive Diagnostic Algorithm in Transthyretin Cardiac Amyloidosis: Is Bone Scintigraphy Always Enough?

by Giulia Marchionni, Giulia Pecci, Maria Alfarano, Jacopo Costantino, Federico Ballatore, Federico Ciccarelli, Antonio Lattanzio, Nicola Galea, Giuseppe De Vincentis and Cristina Chimenti

J. Clin. Med. 2025, 14(23), 8458; https://doi.org/10.3390/jcm14238458 - 28 Nov 2025

Cited by 2 | Viewed by 2391

Abstract

Technetium-99m bone scintigraphy has revolutionized the non-invasive diagnosis of transthyretin cardiac amyloidosis (ATTR-CM) and markedly increased disease recognition. Although this technique should ideally be applied in patients with a high pre-test probability of ATTR-CM, its use in other clinical settings may reveal incidental pathological myocardial uptake that prompts referral to specialized centers even in the absence of typical red flags. In such cases, where confounding factors such as left ventricular hypertrophy from alternative causes may coexist, awareness of potential pitfalls and the integration of scintigraphic findings with clinical features, biomarkers, and echocardiographic data are essential to avoid misdiagnosis and inappropriate therapy. Cardiac magnetic resonance (CMR) imaging provides a crucial complementary role, offering refined tissue characterization, improved differential diagnosis, and valuable prognostic insights. A combined approach that situates scintigraphy within the broader clinical context and incorporates CMR in ambiguous cases is fundamental to ensure an accurate diagnosis and optimal patient management. Full article

(This article belongs to the Special Issue Perspectives on the Diagnosis and Treatment of Cardiomyopathies)

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Other

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30 pages, 2304 KB

Open AccessSystematic Review

Diagnostic Performance of Relative Apical Sparing Across Cardiac Diseases: A Multimodality Systematic Review and Meta-Analysis

by Andrea Sonaglioni, Giulio Francesco Gramaglia, Gian Luigi Nicolosi, Massimo Baravelli and Michele Lombardo

J. Clin. Med. 2026, 15(5), 1685; https://doi.org/10.3390/jcm15051685 - 24 Feb 2026

Viewed by 756

Abstract

Background: Relative apical sparing of longitudinal strain is widely used as a diagnostic marker of cardiac amyloidosis. However, similar deformation patterns have been reported in other cardiac diseases, raising concerns regarding disease specificity. A comprehensive multimodality synthesis of the relative apical sparing pattern (RASP) across disease entities is lacking. Methods: A systematic review and meta-analysis were conducted according to PRISMA guidelines. PubMed, Scopus, and EMBASE were searched through December 2025 for studies reporting RASP or regional longitudinal strain values allowing standardized RASP calculation. Cardiac amyloidosis and major phenocopies—including aortic stenosis, hypertrophic cardiomyopathy, hypertensive heart disease, Fabry disease, mitral valve prolapse, and other cardiomyopathies—were included. Random-effects models were used to compare cardiac amyloidosis with non-amyloid conditions using standardized mean differences (SMDs), with subgroup analyses according to imaging modality (two-dimensional speckle-tracking echocardiography [2D-STE] versus cardiac magnetic resonance feature tracking [CMR-FT]). Results: Fourteen studies (nine 2D-STE and five CMR-FT) were included in the quantitative synthesis. Overall, cardiac amyloidosis was associated with significantly higher RASP compared with non-amyloid conditions (SMD 0.676, 95% CI 0.493–0.860; p < 0.001), with substantial heterogeneity (I² = 96.9%). Modality-stratified analyses showed a very large pooled effect for 2D-STE (SMD 2.152, 95% CI 1.354–2.950; I² = 97.6%) and a moderate, homogeneous effect for CMR-FT (SMD 0.594, 95% CI 0.405–0.782; I² = 0%). Sensitivity analyses confirmed robustness. No significant publication bias was detected by Egger’s test. Conclusions: Relative apical sparing is not specific to cardiac amyloidosis but is most pronounced in this condition. Its diagnostic magnitude varies across modalities and clinical contexts, supporting a multiparametric, modality-specific interpretation. Full article

(This article belongs to the Special Issue Perspectives on the Diagnosis and Treatment of Cardiomyopathies)

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27 pages, 4598 KB

Open AccessSystematic Review

Comparative Meta-Analysis of Left Ventricular Mechanics in Takotsubo Syndrome and Anterior STEMI Due to Left Anterior Descending Artery Occlusion

by Andrea Sonaglioni, Gian Luigi Nicolosi, Michele Lombardo, Massimo Baravelli and Paola Muti

J. Clin. Med. 2025, 14(24), 8748; https://doi.org/10.3390/jcm14248748 - 10 Dec 2025

Cited by 1 | Viewed by 713

Abstract

Background: Takotsubo syndrome (TTS) often mimics anterior ST-elevation myocardial infarction (STEMI) caused by left anterior descending (LAD) occlusion, yet the two entities differ fundamentally in pathophysiology and mechanical behavior. Two-dimensional speckle-tracking echocardiography (2D-STE) enables detailed assessment of left ventricular (LV) deformation beyond conventional ejection fraction (LVEF). This meta-analysis compared global and regional LV strain patterns in TTS versus LAD-related anterior STEMI during the acute phase. Methods: A systematic search of PubMed, Embase, and Scopus through October 2025 identified observational case–control studies directly comparing TTS and angiographically confirmed anterior STEMI, with LV mechanics assessed by 2D-STE. Random-effects models were used to pool standardized mean differences (SMDs) for LVEF; global longitudinal strain (GLS); apical, mid-ventricular, and basal longitudinal strain (ALS, MLS, BLS); and global radial strain (GRS). Heterogeneity (I²), publication bias (funnel plots, Egger’s test), meta-regression, and leave-one-out sensitivity analyses were performed. Results: Six studies comprising 221 TTS and 290 anterior STEMI patients met the inclusion criteria. TTS patients were older, predominantly female, and had fewer metabolic risk factors, while LV size was comparable. LVEF was significantly lower in TTS (SMD −1.149; 95% CI −2.20 to −0.10; p = 0.032), with stable findings across sensitivity analyses and no evidence of publication bias. GLS, ALS, MLS, and BLS showed only a non-significant trend toward greater impairment in TTS, and these comparisons were limited by marked inter-study heterogeneity. In contrast, GRS was significantly and consistently more reduced in TTS (SMD −1.284; 95% CI −1.59 to −0.98; p < 0.001), indicating more profound global radial dysfunction. Meta-regression showed no significant influence of demographic factors or vendor-specific software on LVEF or GLS differences. Conclusions: Compared with LAD-related anterior STEMI, TTS is associated with more severely depressed LVEF and markedly impaired radial strain, while longitudinal strain differences remain inconclusive and suggest only a potential trend toward greater dysfunction, reflecting the limited and heterogeneous evidence. These findings are consistent with diffuse, stress-induced myocardial stunning in TTS and suggest that 2D-STE may aid differentiation between stress cardiomyopathy and ischemic infarction in the acute setting, although longitudinal strain parameters should be interpreted cautiously and regarded as hypothesis-generating. Full article

(This article belongs to the Special Issue Perspectives on the Diagnosis and Treatment of Cardiomyopathies)

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