Feature Review Papers in the ‘Genetics’ Section

A Special Issue of Journal of Cardiovascular Development and Disease (ISSN 2308-3425) belonging to the section "Genetics".

Deadline for manuscript submissions: 30 November 2026 | Viewed by 9000

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Guest Editor
CNR Institute of Clinical Physiology, 56124 Pisa, Italy
Interests: atherosclerosis; coronary artery disease; vascular aging; congenital heart disease; genetics; molecular biology; DNA biomarkers; medical ionizing exposure
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Special Issue Information

Dear Colleagues,

This Special Issue aims to provide readers with a curated collection of high-quality review articles that highlight recent advances in cardiovascular genetics. As our understanding of the genetic basis of cardiovascular disease rapidly evolves, this issue will serve as a valuable reference point for researchers, clinicians, and healthcare professionals seeking a deeper insight into the field’s most impactful developments.

We invite comprehensive review articles that address, but are not limited to, the following key topics:

  • Polygenic Risk Scores in Clinical Practice: development, validation, and potential utility in risk stratification and preventive cardiology.
  • Genome-Wide Association Studies and Rare Variant Discoveries: insights into the genetic architecture of cardiovascular diseases from common and rare genetic variants.
  • Precision Medicine and Cardiovascular Pharmacogenomics: the application of genetic information to optimize drug efficacy and safety.
  • Integration of Genomic and Exposomic Data: exploring how gene–environment interactions improve cardiovascular risk prediction and prevention strategies.
  • Advanced Computational Approaches: the application of network-based models and artificial intelligence/machine learning to analyze multi-omic datasets for novel insights into disease mechanisms.

Dr. Maria Grazia Andreassi
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 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

  • genetics
  • genomics
  • polygenic risk scores
  • genome-wide association studies (GWAS)
  • rare variants
  • pharmacogenomics
  • exposome
  • gene–environment interactions
  • multi-omics

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Published Papers (3 papers)

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Review

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27 pages, 2003 KB  
Review
Maternal–Fetal Crosstalk in Cardiovascular Programming: Linking the Intrauterine Environment to Lifelong Disease Risk
by Ning Wu, Hairui Sun, Siyao Zhang, Jiaqi Fan, Tong Yi, Ruimin Liu and Yihua He
J. Cardiovasc. Dev. Dis. 2026, 13(7), 292; https://doi.org/10.3390/jcdd13070292 - 24 Jun 2026
Viewed by 869
Abstract
Cardiovascular disease (CVD) is the leading cause of morbidity and mortality worldwide, accounting for a substantial proportion of global deaths. Increasing evidence indicates that cardiovascular susceptibility is shaped during fetal development, where the intrauterine environment plays a critical role. Maternal–fetal crosstalk, mediated largely [...] Read more.
Cardiovascular disease (CVD) is the leading cause of morbidity and mortality worldwide, accounting for a substantial proportion of global deaths. Increasing evidence indicates that cardiovascular susceptibility is shaped during fetal development, where the intrauterine environment plays a critical role. Maternal–fetal crosstalk, mediated largely through placental function, coordinates the transfer of metabolic, endocrine, and immune signals that are essential for normal cardiac and vascular development. Disruptions in maternal physiology—including metabolic disorders, hypertensive conditions, inflammation, and environmental stress—can perturb this communication network and alter the intrauterine milieu. These changes induce persistent modifications in cardiomyocyte growth, endothelial function, and key regulatory pathways, thereby contributing to long-term cardiovascular risk. Emerging studies highlight that cardiovascular programming is governed by interconnected mechanisms involving epigenetic regulation, mitochondrial function, immune signaling, and intercellular communication. This review synthesizes current evidence on how maternal–fetal crosstalk shapes cardiovascular development beyond genetic determinants and provides an integrated framework linking early-life exposures to lifelong cardiovascular health. Full article
(This article belongs to the Special Issue Feature Review Papers in the ‘Genetics’ Section)
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30 pages, 981 KB  
Review
Genetic Architecture of Ischemic Stroke: Insights from Genome-Wide Association Studies and Beyond
by Ana Jagodic, Dorotea Zivalj, Antea Krsek and Lara Baticic
J. Cardiovasc. Dev. Dis. 2025, 12(8), 281; https://doi.org/10.3390/jcdd12080281 - 23 Jul 2025
Cited by 6 | Viewed by 5598
Abstract
Ischemic stroke is a complex, multifactorial disorder with a significant heritable component. Recent developments in genome-wide association studies (GWASs) have identified several common variants associated with clinical outcomes, stroke subtypes, and overall risk. Key loci implicated in biological pathways related to vascular integrity, [...] Read more.
Ischemic stroke is a complex, multifactorial disorder with a significant heritable component. Recent developments in genome-wide association studies (GWASs) have identified several common variants associated with clinical outcomes, stroke subtypes, and overall risk. Key loci implicated in biological pathways related to vascular integrity, lipid metabolism, inflammation, and atherogenesis include 9p21 (ANRIL), HDAC9, SORT1, and PITX2. Although polygenic risk scores (PRSs) hold promise for early risk prediction and stratification, their clinical utility remains limited by Eurocentric bias and missing heritability. Integrating multiomics approaches, such as functional genomics, transcriptomics, and epigenomics, enhances our understanding of stroke pathophysiology and paves the way for precision medicine. This review summarizes the current genetic landscape of ischemic stroke, emphasizing how evolving methodologies are shaping its prevention, diagnosis, and treatment. Full article
(This article belongs to the Special Issue Feature Review Papers in the ‘Genetics’ Section)
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Other

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14 pages, 1415 KB  
Systematic Review
Genome-Wide Association Studies of Myocardial Infarction: A Systematic Literature Review
by Isabelle P. Thierry, Reza Jabbari, Thomas Engstrøm, Jacob Tfelt-Hansen and Charlotte Glinge
J. Cardiovasc. Dev. Dis. 2026, 13(3), 127; https://doi.org/10.3390/jcdd13030127 - 10 Mar 2026
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Abstract
Myocardial infarction (MI) remains a leading cause of morbidity and mortality worldwide, which can result in severe complications such as cardiac arrhythmia, heart failure, and sudden cardiac death. Genetic factors contribute to MI etiology and have been studied through genome-wide association studies (GWAS). [...] Read more.
Myocardial infarction (MI) remains a leading cause of morbidity and mortality worldwide, which can result in severe complications such as cardiac arrhythmia, heart failure, and sudden cardiac death. Genetic factors contribute to MI etiology and have been studied through genome-wide association studies (GWAS). This systematic review aims to summarize all GWAS of MI reporting single-nucleotide polymorphisms (SNPs) reaching genome-wide significance (p < 5 × 10−8) and elucidate on their biological relevance and potential clinical utility. A systematic review following PRISMA guidelines was conducted using PubMed and the GWAS Catalog to identify eligible studies. This review included nine GWAS published between 2007 and 2023, conducted in both European and non-European cohorts. GWAS have identified multiple loci associated with MI, pinpointing potential biological pathways underlying MI, and potential therapeutic targets and enhancing risk prediction. Nonetheless, significant challenges remain, particularly the underrepresentation of diverse ancestries and the need for functional follow-up studies to define causal variants and clarify the mechanisms linking genetic variation to MI pathogenesis. Full article
(This article belongs to the Special Issue Feature Review Papers in the ‘Genetics’ Section)
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