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: 31 October 2024 | Viewed by 1122

Special Issue Editors


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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

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
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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

Published Papers (1 paper)

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Research

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
Viewed by 887
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)
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