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Diagnosis, Treatment, and Genetics of Cardiomyopathy
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Diagnosis, Treatment, and Genetics of Cardiomyopathy

A special issue of Journal of Cardiovascular Development and Disease (ISSN 2308-3425). This special issue belongs to the section "Cardiovascular Clinical Research".

Deadline for manuscript submissions: closed (20 April 2025) | Viewed by 5265

Special Issue Editors

Dr. Elham Kayvanpour

E-Mail Website
Guest Editor
1. Institute for Cardiomyopathies Heidelberg (ICH), University Hospital Heidelberg, 69120 Heidelberg, Germany
2. DZHK (German Centre for Cardiovascular Research), Partner Site Heidelberg and Mannheim, 69120 Heidelberg, Germany
3. Department of Internal Medicine III, University Hospital Heidelberg, 69120 Heidelberg, Germany
Interests: biomarkers; genetics of cardiomyopathies; cardiac fibrosis; cardiac miRNA; dilated cardiomyopathy
Dr. Farbod Sedaghat-Hamedani

E-Mail Website
Guest Editor
Department of Internal Medicine III, Heidelberg University Hospital, Heidelberg University, 69120 Heidelberg, Germany
Interests: cardiomyopathy; translational research and personalized medicine in cardiomyopathy; genotype and phenotype of cardiomyopathies; new diagnostic methods and therapy of cardiomyopathies; sports and cardiovascular effects
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

“Diagnosis, Treatment, and Genetics of Cardiomyopathy” is a Special Issue of the Journal of Cardiovascular Development and Disease (JCDD) that focuses on the comprehensive understanding and management of cardiomyopathy, a complex group of heart muscle diseases. This Special Issue serves as a dedicated platform within the journal for researchers, clinicians, and scientists to explore the latest advancements in the field, with a particular emphasis on the diagnosis, treatment, and genetic aspects of cardiomyopathy.

Within this Special Issue, experts contribute original research articles, review papers, and case studies that delve into various topics related to cardiomyopathy. The aim is to provide a comprehensive overview of the identification and classification of different subtypes, novel diagnostic techniques, advances in treatment strategies, and insights into the genetic factors contributing to the development and progression of the disease.

Moreover, this Special Issue features discussions on emerging therapies, clinical trials, and translational research, fostering the translation of scientific discoveries into practical applications in clinical settings. By disseminating cutting-edge research findings and evidence-based practices, the Special Issue aims to advance the understanding of cardiomyopathy and improve patient outcomes.

“Diagnosis, Treatment, and Genetics of Cardiomyopathy” as a Special Issue within the journal offers researchers, clinicians, and healthcare professionals a focused resource to stay updated with the latest developments and insights in the field of cardiomyopathy. Through this dedicated platform, it contributes to the advancement of diagnosis, treatment, and genetic understanding of this complex cardiac condition.

Dr. Elham Kayvanpour
Dr. Farbod Sedaghat-Hamedani
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 Cardiovascular Development and Disease is an international peer-reviewed open access monthly 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 2700 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
  • treatment
  • genetics
  • translational medicine
  • precision medicine

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Published Papers (4 papers)

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Research

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12 pages, 1447 KiB  
Article
The Relationship Between Vitamin D Levels and Cardiac Remodelling in a Pediatric Dilated Cardiomyopathy Population: A Case-Control Study
by Asmaa Carla Hagau, Ioana-Octavia Matacuta-Bogdan, Lacramioara Eliza Chiperi, Beatrix-Jullia Hack and Iolanda Muntean
J. Cardiovasc. Dev. Dis. 2025, 12(3), 82; https://doi.org/10.3390/jcdd12030082 - 21 Feb 2025
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Abstract
Dilated cardiomyopathy (DCM) is a significant contributor to heart failure (HF) in the pediatric population despite its lower incidence compared to adults. Method: We present a case-control study that investigates serum levels of Vitamin D, measured as 25-hydroxyvitamin D (25-OHD), in children diagnosed [...] Read more.
Dilated cardiomyopathy (DCM) is a significant contributor to heart failure (HF) in the pediatric population despite its lower incidence compared to adults. Method: We present a case-control study that investigates serum levels of Vitamin D, measured as 25-hydroxyvitamin D (25-OHD), in children diagnosed with DCM and explores the relationship between Vitamin D levels and left ventricular (LV) dimensions and systolic function. Results: Thirty patients (mean age: 10.61 ± 6.54 years) with DCM were included, with a control group of thirty-one matched healthy children. We found a high prevalence of 25-OHD deficiency (67%) in the DCM group, which was statistically significant compared to the control group (p < 0.05). Notably, a significant negative correlation was observed between 25-OHD levels and both LV end-diastolic diameter (LVEDD; r = −0.43, p < 0.01) and end-systolic diameter (LVESD; r = −0.46, p < 0.01). However, no significant correlation was found between Vitamin D levels and LV ejection fraction or shortening fraction. Conclusion: These findings emphasise the importance of assessing Vitamin D status in pediatric DCM patients and may suggest that Vitamin D supplementation can be beneficial in managing this condition through its potential effects on cardiac remodelling and function. Further research is warranted to clarify the underlying mechanisms and therapeutic implications. Full article
(This article belongs to the Special Issue Diagnosis, Treatment, and Genetics of Cardiomyopathy)
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14 pages, 269 KiB  
Article
Biomarkers and Proteomics in Sarcomeric Hypertrophic Cardiomyopathy in the Young—FGF-21 Highly Associated with Overt Disease
by Anna Wålinder Österberg, Ingegerd Östman-Smith, Henrik Green, Cecilia Gunnarsson, Mats Fredrikson, Petru Liuba and Eva Fernlund
J. Cardiovasc. Dev. Dis. 2024, 11(4), 105; https://doi.org/10.3390/jcdd11040105 - 29 Mar 2024
Cited by 1 | Viewed by 2138
Abstract
Background: Any difference in biomarkers between genotype-positive individuals with overt hypertrophic cardiomyopathy (HCM), and genotype-positive but phenotype-negative individuals (G+P-) in HCM-associated pathways might shed light on pathophysiological mechanisms. We studied this in young HCM patients. Methods: 29 HCM patients, 17 G+P--individuals, and age- [...] Read more.
Background: Any difference in biomarkers between genotype-positive individuals with overt hypertrophic cardiomyopathy (HCM), and genotype-positive but phenotype-negative individuals (G+P-) in HCM-associated pathways might shed light on pathophysiological mechanisms. We studied this in young HCM patients. Methods: 29 HCM patients, 17 G+P--individuals, and age- and sex-matched controls were prospectively included. We analyzed 184 cardiovascular disease-associated proteins by two proximity extension assays, categorized into biological pathways, and analyzed with multivariate logistic regression analysis. Significant proteins were dichotomized into groups above/below median concentration in control group. Results: Dichotomized values of significant proteins showed high odds ratio (OR) in overt HCMphenotype for Fibroblast growth factor-21 (FGF-21) 10 (p = 0.001), P-selectin glycoprotein ligand-1 (PSGL-1) OR 8.6 (p = 0.005), and Galectin-9 (Gal-9) OR 5.91 (p = 0.004). For G+P-, however, angiopoietin-1 receptor (TIE2) was notably raised, OR 65.5 (p = 0.004), whereas metalloproteinase inhibitor 4 (TIMP4) involved in proteolysis, in contrast, had reduced OR 0.06 (p = 0.013). Conclusions: This study is one of the first in young HCM patients and G+P- individuals. We found significantly increased OR for HCM in FGF-21 involved in RAS-MAPK pathway, associated with cardiomyocyte hypertrophy. Upregulation of FGF-21 indicates involvement of the RAS-MAPK pathway in HCM regardless of genetic background, which is a novel finding. Full article
(This article belongs to the Special Issue Diagnosis, Treatment, and Genetics of Cardiomyopathy)

Review

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20 pages, 6091 KiB  
Review
The Role of Cardiac Magnetic Resonance Imaging in the Management of Hypertrophic Cardiomyopathy
by Luca Pugliese, Alessandra Luciano and Marcello Chiocchi
J. Cardiovasc. Dev. Dis. 2025, 12(5), 189; https://doi.org/10.3390/jcdd12050189 - 15 May 2025
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Abstract
Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiomyopathy, caused by either sarcomere protein or other gene mutations. It is a complex and highly heterogeneous disorder, with phenotypes ranging from asymptomatic to severe disease, characterized by asymmetric left ventricular (LV) hypertrophy unexplained by [...] Read more.
Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiomyopathy, caused by either sarcomere protein or other gene mutations. It is a complex and highly heterogeneous disorder, with phenotypes ranging from asymptomatic to severe disease, characterized by asymmetric left ventricular (LV) hypertrophy unexplained by loading conditions, which is also associated with myocardial fiber disarray, and preserved or increased ejection fraction without LV dilation. Comprehensive personal and family history, physical examination, and ECG testing raise suspicion of HCM, and echocardiogram represents the first-line imaging modality for confirming a diagnosis. Moreover, contrast-enhanced cardiac magnetic resonance (CMR) imaging has increasingly emerged as a fundamental diagnostic and prognostic tool in HCM management. This article reviews the role of CMR in HCM identification and differentiation from phenotypic mimics, characterization of HCM phenotypes, monitoring of disease progression, evaluation of pre- and post-septal reduction treatments, and selection of candidates for implantable cardioverter-defibrillator. By providing information on cardiac morphology and function and tissue characterization, CMR is particularly helpful in the quantification of myocardial wall thickness, the detection of hypertrophy in areas blind to echocardiogram, subtle morphologic features in the absence of LV hypertrophy, myocardial fibrosis, and apical aneurysm, the evaluation of LV outflow tract obstruction, and the assessment of LV function in end-stage dilated HCM. Full article
(This article belongs to the Special Issue Diagnosis, Treatment, and Genetics of Cardiomyopathy)
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25 pages, 5016 KiB  
Review
Arrhythmogenic Right Ventricular Cardiomyopathy: A Comprehensive Review
by Taha Shaikh, Darren Nguyen, Jasmine K. Dugal, Michael V. DiCaro, Brianna Yee, Nazanin Houshmand, KaChon Lei and Ali Namazi
J. Cardiovasc. Dev. Dis. 2025, 12(2), 71; https://doi.org/10.3390/jcdd12020071 - 13 Feb 2025
Viewed by 1560
Abstract
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterized by structural abnormalities, arrhythmias, and a spectrum of genetic and clinical manifestations. Clinically, ARVC is structurally distinguished by right ventricular dilation due to increased adiposity and fibrosis in the ventricular walls, and it manifests as cardiac [...] Read more.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterized by structural abnormalities, arrhythmias, and a spectrum of genetic and clinical manifestations. Clinically, ARVC is structurally distinguished by right ventricular dilation due to increased adiposity and fibrosis in the ventricular walls, and it manifests as cardiac arrhythmias ranging from non-sustained ventricular tachycardia to sudden cardiac death. Its prevalence has been estimated to range from 1 in every 1000 to 5000 people, with its large range being attributed to the variability in genetic penetrance from asymptomatic to significant burden. It is even suggested that the prevalence is underestimated, as the presence of genotypic mutations does not always lead to clinical manifestations that would facilitate diagnosis. Additionally, while set criteria have been in place since the 1990s, newer understanding of this condition and advancements in cardiac technology have prompted multiple revisions in the diagnostic criteria for ARVC. Novel discoveries of gene variants predisposing patients to ARVC have led to established screening techniques while providing insight into genetic counseling and management. This review aims to provide an overview of the genetics, pathophysiology, and clinical approach to ARVC. It will also focus on clinical presentation, ARVC diagnostic criteria, electrophysiological findings, including electrocardiogram characteristics, and imaging findings from cardiac MRI, 2D, and 3D echocardiogram. Current management options—including anti-arrhythmic medications, device indications, and ablation techniques—and the effectiveness of treatment will also be reviewed. Full article
(This article belongs to the Special Issue Diagnosis, Treatment, and Genetics of Cardiomyopathy)
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