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Diagnostics
Special Issues
Molecular Diagnosis and Medical Management of Cardiovascular Diseases
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Molecular Diagnosis and Medical Management of Cardiovascular Diseases

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: 31 March 2026 | Viewed by 899

Special Issue Editor

Dr. Yiqing Yang

E-Mail Website
Guest Editor
1. Department of Cardiology, Shanghai Fifth People’s Hospital, Fudan University, Shanghai 200240, China
2. Department of Cardiovascular Research Laboratory, Shanghai Fifth People’s Hospital, Fudan University, Shanghai 200240, China
3. Department of Central Laboratory, Shanghai Fifth People’s Hospital, Fudan University, Shanghai 200240, China
Interests: cardiovascular disease; congenital heart disease; arrhythmias; atrial fibrillation; cardiomyopathy; essential hypertension; molecular genetics; human genomics
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Cardiovascular disease (CVD) refers to a wide variety of pathogenic conditions that affect the heart and vessels, including congenital heart disease, coronary heart disease, rheumatic heart disease, cardiomyopathy, cardiac arrhythmias, essential hypertension, heart failure, and stroke. CHD remains the number one cause of death worldwide, accounting for one third of global deaths and, consequently, a tremendous burden for human healthcare systems. It is caused by both genetic and environmental risk factors; therefore, a comprehensive understanding of the etiologies and mechanisms behind CVD could improve early diagnosis and personalized treatment in CVD. This Special Issue will focus on etiologies, pathogenesis, and diagnostic, therapeutic, and preventive modalities in CVD. Research articles focusing on newly discovered molecular causes, pathogeneses, diagnostics, and medical management strategies in patients with CVD are strongly encouraged.

I hope that this Special Issue will provide novel insights into diagnosis, prophylaxis, and treatment in CVD. Authors can submit original research articles, reviews, case reports, and guidelines covering any aspect of this topic.

Dr. Yiqing Yang
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. Diagnostics 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

  • cardiovascular disease
  • congenital heart disease
  • coronary artery disease
  • arrhythmia
  • cardiomyopathy
  • essential hypertension
  • stroke
  • molecular genetics
  • epidemiology
  • biomarkers

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Published Papers (2 papers)

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Research

22 pages, 3227 KB  
Article
Associations Between Regulatory Immune Cells, Thymus Cellular Remodeling, and Vascular Aging in Advanced Coronary Atherosclerosis: A Pilot Study
by Irina Kologrivova, Alexey Dmitriukov, Natalia Naryzhnaya, Olga Koshelskaya, Olga Kharitonova, Alexandra Vyrostkova, Elena Kravchenko, Ivan Stepanov, Sergey Andreev, Vladimir Evtushenko, Anna Gusakova, Oksana Ogurkova and Tatiana Suslova
Diagnostics 2025, 15(19), 2494; https://doi.org/10.3390/diagnostics15192494 - 30 Sep 2025
Abstract
Background/Objectives: Biological aging phenotypes in coronary artery disease (CAD) include coronary atherosclerosis, vascular aging, and endothelial dysfunction. The aim of the present study was to investigate the potential links between aging phenotypes, regulatory immune cells, and features of the thymus in patients with [...] Read more.
Background/Objectives: Biological aging phenotypes in coronary artery disease (CAD) include coronary atherosclerosis, vascular aging, and endothelial dysfunction. The aim of the present study was to investigate the potential links between aging phenotypes, regulatory immune cells, and features of the thymus in patients with CAD. Methods: A single-center, cross-sectional, comparative study was conducted. Patients were stratified according to the severity of coronary atherosclerosis: patients with a Gensini score ≥ 65 points and patients with a Gensini score < 65 points. Peripheral blood and thymus biopsy were obtained. Imaging flow cytometry, ELISA, and immunohistochemical analysis were used for analysis. Results: Thymic morphology ranged from total fatty involution to a preserved structure of the thymus (20–80% area in 31% of obtained samples) but was not associated with the severity of atherosclerosis. Meanwhile, patients with a Gensini score ≥ 65 had impaired thymus cellular composition compared to patients with a Gensini score < 65 points; increased frequency of CD8+ T lymphocytes and NK cells; and decreased frequency of CD4 + CD8+ T lymphocytes. In peripheral blood, the main determinants of a Gensini score ≥ 65 points were low absolute counts of eMDSCs and CD25low Tregs with FoxP3 nuclear translocation, while advanced vascular aging was associated with elevated eMDSC absolute counts. Advanced coronary atherosclerosis was also associated with decreased numbers of endothelial progenitor cells in circulation. Conclusions: Thymus dysfunction accompanies CAD progression and is manifested in changes in cellular composition rather than morphology. In CAD patients, MDSC and Treg lymphocytes are equally involved in the progression of coronary atherosclerosis, which is aggravated by the decreased regulatory potential of the endothelium. Vascular aging represents a distinct phenotype of biological aging in CAD patients, characterized by the expansion of eMDSCs. Full article
(This article belongs to the Special Issue Molecular Diagnosis and Medical Management of Cardiovascular Diseases)
20 pages, 629 KB  
Article
Discovery of ETS1 as a New Gene Predisposing to Dilated Cardiomyopathy
by Zun-Ping Ke, Jia-Ning Gu, Chen-Xi Yang, Xue-Lin Li, Su Zou, Yi-Zhe Bian, Ying-Jia Xu and Yi-Qing Yang
Diagnostics 2025, 15(16), 2031; https://doi.org/10.3390/diagnostics15162031 - 13 Aug 2025
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Abstract
Background/Objectives: Dilated cardiomyopathy (DCM), defined as dilation and contractile dysfunction of the left or both cardiac ventricles, remains the most common category of primary myocardial disease worldwide. It is the most prevalent cause of chronic heart failure and the most common indication for [...] Read more.
Background/Objectives: Dilated cardiomyopathy (DCM), defined as dilation and contractile dysfunction of the left or both cardiac ventricles, remains the most common category of primary myocardial disease worldwide. It is the most prevalent cause of chronic heart failure and the most common indication for cardiac transplantation in young subjects. Accumulating evidence increasingly highlights the substantial genetic defects underlying DCM. Nevertheless, the genetic ingredients accountable for DCM in a major percentage of patients remain indefinite. Methods: A multigenerational pedigree suffering from DCM and a total of 276 healthy volunteers employed as controls were recruited from the Chinese Han-ethnicity population. A whole-exome sequencing (WES) assay followed by a Sanger sequencing analysis of the genomic DNAs from the available family members was implemented. Functional characterization of the identified genetic variant was completed by dual-luciferase analysis. Results: A new heterozygous variation in the ETS1 (erythroblast transformation-specific 1) gene, NM_005238.4:c.447T>G;p.(Tyr149*), was identified by WES and validated by Sanger sequencing analysis to co-segregate with DCM in the whole DCM family. This nonsense ETS1 variant was not found in 276 control subjects. Functional examination elucidated that Tyr149*-mutant ETS1 lost the ability to transactivate its downstream target genes CLDN5 (claudin 5) and ALK1 (activin receptor-like kinase 1), two genes crucial for cardiovascular embryonic development and postnatal structural remodeling. Conclusions: The present investigation reveals ETS1 as a new gene predisposed to human DCM and indicates ETS1 haploinsufficiency as an alternative molecular pathogenesis underlying DCM, providing a potential molecular target for genetic counseling and early diagnosis as well as personalized prophylaxis of DCM. Full article
(This article belongs to the Special Issue Molecular Diagnosis and Medical Management of Cardiovascular Diseases)
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