Insights into the Genomic and Genetic Basis of Cardiovascular Disease

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: 10 December 2025 | Viewed by 671

Special Issue Editors


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Guest Editor
Cardiology, Azienda Sanitaria Universitaria Friuli Centrale, 33100 Udine, Italy
Interests: acute coronary syndromes; cardio-oncology; pericardial diseases; atrial fibrillation

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Guest Editor
Department of Biomedical & Specialty Surgical Sciences, and Centre Haemostasis & Thrombosis, Section of Medical Biochemistry, Molecular Biology & Genetics, University of Ferrara, Corso Giovecca 203, 44121 Ferrara, Italy
Interests: pharmacogenetics/genomics; precision medicine and gender medicine in inherited thrombophilia and cardiovascular disease; coagulation; iron homeostasis and folate pathways; genetics of wound healing; childhood haematological malignancies
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Special Issue Information

Dear Colleagues,

In the real world, clinicians who deal with the various branches of cardiology (cardiomyopathy, inflammatory diseases, arrhythmias, coronary syndromes, etc.) often need a genetic consultation to better characterize individual patients and practice precision medicine. Sharing cases with geneticists will be increasingly frequent and is essential for good clinical practice.

Background: Over the past two decades, genetic analysis has allowed us to characterize patients with cardiovascular disease in a more thorough and precise way. The progress in understanding the genetic basis of cardiovascular disease has allowed clinical cardiologists to treat patients with greater precision, improving their survival. Progress in the field of cardiomyopathies and channelopathies has been remarkable, and, in the near future, we will be able to better characterize some currently "idiopathic" pathologies (inflammatory heart disease, arrhythmias, spontaneous coronary dissection, etc.).

Aim and scope: The aim of this Special Issue is to present the most recent advances in genetics in some cardiovascular diseases in order to update the knowledge of clinicians and to improve daily clinical practice.

History: In recent decades, genetic analysis has allowed us to better characterize patients with cardiomyopathies (e.g., arrhythmogenic dysplasia, hypertrophic cardiomyopathy, dilated cardiomyopathy, transthyretin amyloidosis) and channelopathies (e.g., long QT and Brugada). In the coming years, we will be able to give a name to some seemingly idiopathic pathologies, which instead have a genetic basis, such as idiopathic ventricular fibrillation, atrial fibrillation without signs of structural heart disease, recurrent pericarditis and perimyocarditis, spontaneous coronary dissection, or anti-cancer drug cardiotoxicity.

Cutting-edge research: Research has achieved many advances in the definition of cardiomyopathies and channelopathies for the prevention of heart failure progression and sudden death. At present, however, we need to enrich our knowledge regarding apparently idiopathic malignant ventricular arrhythmias, acute coronary syndromes from spontaneous dissection, myocarditis, and recurrent pericarditis. Finally, in the field of cardio-oncology, we do not know why some patients develop some forms of early or late cardiotoxicity; could genetic analysis direct the oncologist to choose alternative therapies or the cardiologist to adopt cardioprotective therapies?

What kind of papers we are soliciting: We are looking for up-to-date reviews with the latest findings in cardiovascular genetics, but we also accept original articles and other types.

Dr. Marzia de Biasio
Prof. Dr. Donato Gemmati
Guest Editors

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Keywords

  • recurrent idiopathic pericarditis and perimyocarditis
  • spontaneous coronary dissection
  • sudden idiopathic cardiac death
  • idiopathic atrial fibrillation
  • cardio-oncology and cardio toxicity of anti anti-cancer drugs

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Published Papers (1 paper)

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Research

16 pages, 1912 KB  
Article
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals
by Irina Dzhumaniiazova, Elena Zelenova, Veronika Daniel, Mariia Gusakova, Dariia Kashtanova, Mikhail Ivanov, Olga Blinova, Vladimir Yudin, Lorena Matkava, Sergey Mitrofanov, Alexandra Nekrasova, Ekaterina Petriaikina, Marina Erokhina, Aleksey Ivashechkin, Ekaterina Maralova, Olesya Marchenko, Valentina Maksyutina, Valentin Makarov, Anton Keskinov, Sergey Kraevoy and Sergey Yudinadd Show full author list remove Hide full author list
Genes 2025, 16(10), 1228; https://doi.org/10.3390/genes16101228 - 17 Oct 2025
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Abstract
Background: Cardiovascular diseases remain a leading cause of death worldwide, yet the prevalence of pathogenic and likely pathogenic genetic variants associated with them is still underassessed in some populations. This study aimed to assess the frequency and geographic distribution of such variants within [...] Read more.
Background: Cardiovascular diseases remain a leading cause of death worldwide, yet the prevalence of pathogenic and likely pathogenic genetic variants associated with them is still underassessed in some populations. This study aimed to assess the frequency and geographic distribution of such variants within a representative sample of the Russian population. Additionally, it explored potential links between genotype and phenotype in a cohort of long-lived adults. Methods: We analyzed whole-genome sequencing data from 75,144 adults and 2,872 individuals aged 90 and older. Variants within 37 ACMG v3.1 genes were examined using InterVar, focusing on nonsynonymous variants and indels across exons and splicing sites. Variants were grouped based on ClinVar (as of 24 April 2023) annotations, with most subjected to manual review to confirm their significance. Results: Among the adult participants, 3,817 (5.1%) carried at least one of the variants under consideration. Of these, 141 (0.19%) carried pathogenic, 580 (0.77%) likely pathogenic, and 3,127 (4.16%) variants of uncertain significance. Variants not registered in ClinVar were found in 1,782 individuals (2.37%). Notably, one participant with cardiomyopathy carried a heterozygous TTN variant. In the long-lived cohort, 15 variants were classified as pathogenic or likely pathogenic, alongside 72 uncertain variants; overall, 19 individuals (0.66%) carried pathogenic or likely pathogenic variants. No significant difference was observed in variant frequency between the adult and long-lived groups. Conclusions: This study provided essential insights into the prevalence and geographic distribution of cardiovascular disease-related variants in Russia, laying the foundation for targeted genetic screening disease prevention strategies within this population. Full article
(This article belongs to the Special Issue Insights into the Genomic and Genetic Basis of Cardiovascular Disease)
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