Cardiovascular Diseases in the Era of Precision Medicine

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular and Translational Medicine".

Deadline for manuscript submissions: 30 September 2025 | Viewed by 3034

Special Issue Editors


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Guest Editor
School of Medicine, National & Kapodistrian University of Athens, Athens, Greece
Interests: cardiology; arrhythmias; electrophysiology; e-cardiology; artificial intelligence

E-Mail Website
Guest Editor
School of Medicine, National & Kapodistrian University of Athens, Athens, Greece
Interests: cardiology; arrhythmias; electrophysiology; e-cardiology; artificial intelligence; telemonitoring

Special Issue Information

Dear Colleagues,

This Special Issue aims to highlight the latest advancements in the detection, treatment and management of cardiovascular diseases through the application of precision medicine. We welcome submissions that delve into aspects of experimental and laboratory medicine, focusing on the innovative methodologies and technologies driving personalized cardiovascular care. The scope of this Specail Issue includes, but is not limited to, the folloiwng topics:

  • Cutting-edge diagnostic tools and techniques tailored to individual patient profiles.
  • Biosignal and other big data analysis for the detection and prediction of cardiovascular conditions.
  • The application of genomics, proteomics and metabolomics in developing personalized cardiovascular treatments.
  • Advances in imaging technologies for accurate and detailed cardiovascular assessments.
  • Personalized therapeutic strategies and their impact on patient outcomes.
  • The integration of multi-omics data to enhance our understanding and treatment of cardiovascular diseases.
  • Ethical considerations and challenges in the implementation of precision medicine within cardiology.

We encourage the submission of papers that reflect current research trends and advancements in precision medicine, offering insights into how these innovations are shaping the future of cardiovascular disease management.

Dr. Panteleimon Pantelidis
Dr. Polychronis E. Dilaveris
Guest Editors

Manuscript Submission Information

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Keywords

  • cardiology
  • precision medicine
  • cardiovascular diseases
  • genomics
  • proteomics
  • multi-omics
  • personalized therapy
  • diagnostic tools
  • imaging technologies
  • biosignals

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Published Papers (4 papers)

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Review

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20 pages, 1091 KiB  
Review
Hearts, Data, and Artificial Intelligence Wizardry: From Imitation to Innovation in Cardiovascular Care
by Panteleimon Pantelidis, Polychronis Dilaveris, Samuel Ruipérez-Campillo, Athina Goliopoulou, Alexios Giannakodimos, Panagiotis Theofilis, Raffaele De Lucia, Ourania Katsarou, Konstantinos Zisimos, Konstantinos Kalogeras, Evangelos Oikonomou and Gerasimos Siasos
Biomedicines 2025, 13(5), 1019; https://doi.org/10.3390/biomedicines13051019 - 23 Apr 2025
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Abstract
Artificial intelligence (AI) is transforming cardiovascular medicine by enabling the analysis of high-dimensional biomedical data with unprecedented precision. Initially employed to automate human tasks such as electrocardiogram (ECG) interpretation and imaging segmentation, AI’s true potential lies in uncovering hidden disease data patterns, predicting [...] Read more.
Artificial intelligence (AI) is transforming cardiovascular medicine by enabling the analysis of high-dimensional biomedical data with unprecedented precision. Initially employed to automate human tasks such as electrocardiogram (ECG) interpretation and imaging segmentation, AI’s true potential lies in uncovering hidden disease data patterns, predicting long-term cardiovascular risk, and personalizing treatments. Unlike human cognition, which excels in certain tasks but is limited by memory and processing constraints, AI integrates multimodal data sources—including ECG, echocardiography, cardiac magnetic resonance (CMR) imaging, genomics, and wearable sensor data—to generate novel clinical insights. AI models have demonstrated remarkable success in early dis-ease detection, such as predicting heart failure from standard ECGs before symptom on-set, distinguishing genetic cardiomyopathies, and forecasting arrhythmic events. However, several challenges persist, including AI’s lack of contextual understanding in most of these tasks, its “black-box” nature, and biases in training datasets that may contribute to disparities in healthcare delivery. Ethical considerations and regulatory frameworks are evolving, with governing bodies establishing guidelines for AI-driven medical applications. To fully harness the potential of AI, interdisciplinary collaboration among clinicians, data scientists, and engineers is essential, alongside open science initiatives to promote data accessibility and reproducibility. Future AI models must go beyond task automation, focusing instead on augmenting human expertise to enable proactive, precision-driven cardiovascular care. By embracing AI’s computational strengths while addressing its limitations, cardiology is poised to enter an era of transformative innovation beyond traditional diagnostic and therapeutic paradigms. Full article
(This article belongs to the Special Issue Cardiovascular Diseases in the Era of Precision Medicine)
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30 pages, 1003 KiB  
Review
Non-Anticoagulation Strategies Aimed at Primary Stroke Prevention in Nascent Atrial Fibrillation
by Luca Sgarra, Vanessa Desantis, Andrea Matteucci, Vincenzo Paolo Caccavo, Federica Troisi, Antonio Di Monaco, Francesco Mangini, Grigorios Katsouras, Andrea Igoren Guaricci, Michele Luca Dadamo, Fabrizio Fortunato, Carmela Nacci, Maria Assunta Potenza, Monica Montagnani and Massimo Grimaldi
Biomedicines 2025, 13(3), 660; https://doi.org/10.3390/biomedicines13030660 - 7 Mar 2025
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Abstract
At its earliest appearance, atrial fibrillation (AF) is often unnoticed, asymptomatic, and/or merely device-detected. Widespread use of heart-rate monitoring technologies has facilitated such “nascent atrial fibrillation (nAF)” recognition. Consequently, clinicians face a growing number of patients affected by new-onset AF in the absence [...] Read more.
At its earliest appearance, atrial fibrillation (AF) is often unnoticed, asymptomatic, and/or merely device-detected. Widespread use of heart-rate monitoring technologies has facilitated such “nascent atrial fibrillation (nAF)” recognition. Consequently, clinicians face a growing number of patients affected by new-onset AF in the absence of a definite indication for anticoagulation due to several counterarguments: (1) a CHA2DS2-VA score ≤ 1 in otherwise apparently healthy subjects; (2) an uncertain embolic/hemorrhagic benefit/risk ratio with anticoagulation; (3) EKG demonstration and confirmation of AF; and (4) existence of a pathogenic mechanism other than atrial hypercoagulability. In this frustrating limitation of pharmacological options, cardiologists may miss a complete comprehension of drugs with proven anti-ictal potential, whose administration may serve both as a bridge strategy toward future anticoagulation and as a consolidative strategy paralleling anticoagulation. This review aims to summarize and elucidate such therapeutic strategies and their preventative mechanisms. Full article
(This article belongs to the Special Issue Cardiovascular Diseases in the Era of Precision Medicine)
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13 pages, 2296 KiB  
Case Report
A Novel Bradycardia-Associated Variant in HCN4 as a Candidate Modifier in Type 3 Long QT Syndrome: Case Report and Deep In Silico Analysis
by Anna A. Bukaeva, Anastasia V. Blokhina, Maria S. Kharlap, Marija Zaicenoka, Evgenia D. Zotova, Anna V. Petukhova, Elizaveta V. Garbuzova, Anastasia A. Zharikova, Mikhail G. Divashuk, Anna V. Kiseleva, Alexandra I. Ershova, Alexey N. Meshkov and Oxana M. Drapkina
Biomedicines 2025, 13(4), 1008; https://doi.org/10.3390/biomedicines13041008 - 21 Apr 2025
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Abstract
Background: Genetic testing for long QT syndrome (LQTS) is straightforward in many families; however, in severe and complex cases, a single disease-causing variant may not be enough to explain all clinical features. In such cases, the search for genetic modifiers may be beneficial [...] Read more.
Background: Genetic testing for long QT syndrome (LQTS) is straightforward in many families; however, in severe and complex cases, a single disease-causing variant may not be enough to explain all clinical features. In such cases, the search for genetic modifiers may be beneficial for precise diagnosis and management. Case presentation: We describe a three-generational family affected with clinically heterogeneous LQTS type 3 and bradycardia in which a novel missense variant p.V642M in HCN4 was identified in addition to the known pathogenic variant p.E1784K in SCN5A. We performed the detailed clinical investigation of the family and a deep in silico analysis of the discovered variants, showing the causal role of a new HCN4 variant in sinus bradycardia and its possible contribution to the phenotypic heterogeneity of LQTS type 3. Conclusions: This case is the first description of a functional variant in HCN4 as a candidate modifier in LQTS type 3 and demonstrates the importance of analyzing additional genetic variations in families with complex LQTS phenotypes. Full article
(This article belongs to the Special Issue Cardiovascular Diseases in the Era of Precision Medicine)
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14 pages, 646 KiB  
Systematic Review
Does Artificial Intelligence Bring New Insights in Diagnosing Phlebological Diseases?—A Systematic Review
by Sergiu-Ciprian Matei, Sorin Olariu, Ana-Maria Ungureanu, Daniel Malita and Flavia Medana Petrașcu
Biomedicines 2025, 13(4), 776; https://doi.org/10.3390/biomedicines13040776 - 22 Mar 2025
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Abstract
Background/Objectives: Artificial intelligence (AI) is rapidly transforming the landscape of modern medicine, offering advanced tools for diagnosing complex conditions. In the realm of venous pathologies such as chronic venous disease (CVD), venous reflux, and deep venous thrombosis (DVT), AI has shown tremendous [...] Read more.
Background/Objectives: Artificial intelligence (AI) is rapidly transforming the landscape of modern medicine, offering advanced tools for diagnosing complex conditions. In the realm of venous pathologies such as chronic venous disease (CVD), venous reflux, and deep venous thrombosis (DVT), AI has shown tremendous potential to improve diagnostic accuracy, streamline workflows, and enhance clinical decision-making. This study aims to evaluate the efficacy and feasibility of AI algorithms in diagnosing venous diseases and explore their potential impact on clinical practice. Methods: This paper provides a comprehensive review of key studies documenting the use of AI in venous pathology diagnostics, with different electronic databases being searched, including MEDLINE/Pub Med, Web of Science, Scopus, Embase, ResearchGate, and Google Scholar. Results: Out of 52 reports assessed for eligibility, 43 were excluded according to the preset criteria; therefore, findings from nine major studies involving more than 1000 patients were analyzed. The evaluation shows that AI utilization in the diagnosis of venous pathologies has demonstrated significant improvements. Notably, AI algorithms have achieved an accuracy exceeding 90%, significantly reducing inter-observer variability and ensuring consistent interpretation of ultrasonographic images across different clinicians and settings. Additionally, AI has accelerated diagnostic workflows, decreasing the time required for image analysis by more than 50%. Furthermore, AI has proven capable of detecting subtle abnormalities, such as minor venous reflux or early-stage thrombi, which may be overlooked during manual evaluations. Conclusions: Artificial intelligence represents a transformative innovation in the diagnosis and management of venous diseases. By enhancing diagnostic accuracy, streamlining workflows, and enabling personalized care, AI has the potential to address current challenges in venous diagnostics and improve patient outcomes. The future of AI in venous diagnostics is promising, and several areas of development were noted, including AI algorithms embedding directly into ultrasound devices to provide instantaneous diagnostic insights during patient evaluations; combining AI-processed Doppler data with other imaging modalities, such as computed tomography or MRI, for comprehensive assessments; AI usage in order to predict disease progression and tailor treatment strategies based on individual patient profiles; and constructing large-scale, multicenter datasets to improve the robustness and generalizability of AI algorithms. Full article
(This article belongs to the Special Issue Cardiovascular Diseases in the Era of Precision Medicine)
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