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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: 30 September 2025 | Viewed by 323

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 (1 paper)

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Research

20 pages, 629 KiB  
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
Viewed by 203
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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