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Biomedicines
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Molecular and Translational Research in Cardiovascular Disease
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Molecular and Translational Research in Cardiovascular Disease

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

Deadline for manuscript submissions: closed (30 April 2025) | Viewed by 1753

Special Issue Editors

Prof. Dr. Simon Lebek

E-Mail Website
Guest Editor
Department of Internal Medicine II, University Hospital Regensburg, 93053 Regensburg, Germany
Interests: cardiovascular diseases; sleep-disordered breathing; CRISPR-Cas9 gene editing; heart failure; arrhythmias; translational research
Special Issues, Collections and Topics in MDPI journals
Dr. Philipp Hegner

E-Mail Website
Guest Editor
Department of Internal Medicine II, University Hospital Regensburg, 93053 Regensburg, Germany
Interests: cardiovascular diseases; arrhythmias; atrial fibrillation; sleep-disordered breathing

Special Issue Information

Dear Colleagues,

Cardiovascular disease remains the leading cause of death, especially in developed countries around the world. Over 80% of cardiovascular deaths are still due to a heart attack or stroke. Associated diseases, such as heart failure or atrial fibrillation, further increase patient morbidity and mortality. Additionally, comorbidities, such as sleep apnea, result in worse patient outcomes. Despite the introduction of novel therapies, such as SGLT-2 inhibitors for heart failure, prognoses remain poor, with five-year mortality for heart failure patients reaching 50%. Therefore, novel therapies are urgently warranted, and an improved understanding of current therapeutics as well as disease mechanisms is essential. The aim of this Special Issue is to provide novel insights into translational and/or mechanistic aspects of cardiovascular disease entities.

In this Special Issue, original research articles and reviews are welcome. Research areas may include (but are not limited to) the following: heart failure, arrhythmias, atrial fibrillation, ion channel disorders, cardiomyopathies, and sleep-disordered breathing. Both clinical and translation basic science contributions are encouraged.

We look forward to receiving your contributions.

Prof. Dr. Simon Lebek
Dr. Philipp Hegner
Guest Editors

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. Biomedicines 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 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
  • heart failure
  • atrial fibrillation
  • arrhythmias
  • lon channels
  • sleep apnea

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Published Papers (3 papers)

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Research

25 pages, 1639 KiB  
Article
Plasma Fatty Acid Profiling and Mathematical Estimation of the Omega-3 Index: Toward Diagnostic Tools in Atherosclerosis and Statin Therapy Monitoring
by Nikolay Eroshchenko, Elena Danilova, Anastasiia Lomonosova, Alexey Antonik, Svetlana Lebedeva, Daria Gognieva, Dmitry Shchekochikhin, Tatiana Demura, Marina Krot, Nana Gogiberidze, Abram Syrkin and Philipp Kopylov
Biomedicines 2025, 13(6), 1383; https://doi.org/10.3390/biomedicines13061383 - 4 Jun 2025
Viewed by 115
Abstract
Background/Objectives: Omega-3 highly unsaturated fatty acids (HUFAs), particularly EPA and DHA, have anti-inflammatory and lipid-modulating properties for treating atherosclerosis. However, the relationship between plasma fatty acid profiles, omega-3 status, and statin efficacy in carotid atherosclerosis remains poorly defined. Objectives: This study evaluates plasma [...] Read more.
Background/Objectives: Omega-3 highly unsaturated fatty acids (HUFAs), particularly EPA and DHA, have anti-inflammatory and lipid-modulating properties for treating atherosclerosis. However, the relationship between plasma fatty acid profiles, omega-3 status, and statin efficacy in carotid atherosclerosis remains poorly defined. Objectives: This study evaluates plasma and plaque fatty acid (FA) composition, explores their associations with plaque stability, and examines the relationship of omega-3 levels, lipid biomarkers (VLDL-C, LDL-C, HDL-C, total cholesterol, and triglycerides) with statin and β-blocker treatment. A mathematical model was developed to predict the erythrocyte omega-3 index from plasma. Methods: In this case–control study, plasma and carotid plaques of 52 patients undergoing carotid endarterectomy were analyzed. Plasma was compared with that of 50 healthy controls. FAs were quantified by LC-MS/MS. Plaques were histologically classified as stable or unstable. Results: Atherosclerotic patients showed disturbed FA metabolism, including decreased plasma omega-3 EPA + DHA, SFAs and HUFAs, increased MUFAs, and impaired desaturase and elongase activity. Unstable plaques had higher MUFA and lower HUFA content compared with stable plaques. Significant correlations between plasma EPA + DHA and HDL-C and triglycerides were observed in statin-naïve patients, whereas statins appeared to attenuate these associations. Co-treatment with β-blockers had no significant effect. A validated logit-based model accurately predicted the erythrocyte omega-3 index from plasma (R2 = 0.782). Conclusions: Altered plasma and plaque FA profiles correlate with atherosclerosis’s plaque instability and inflammatory lipid profiles. Statins significantly influence these associations, suggesting their complex interaction with lipid metabolism. Plasma measurements of omega-3 fatty acids in combination with predictive modelling may be beneficial for diagnostic and therapeutic monitoring in carotid atherosclerosis. Full article
(This article belongs to the Special Issue Molecular and Translational Research in Cardiovascular Disease)
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13 pages, 256 KiB  
Article
Prevalence and Clinical Impact of Obstructive Sleep Apnea in Patients with Severe Aortic Stenosis Undergoing Valve Replacement
by Hilary Miranda-Mendoza, Luis M. Amezcua-Guerra, Gustavo Rojas-Velasco, Daniel Manzur-Sandoval, Jennifer Escobar-Alvarado, Luis Chávez-Sánchez, Wendy G. Vázquez-González, Laura L. Rodríguez Chávez, Humberto Martínez Hernández and Malinalli Brianza-Padilla
Biomedicines 2025, 13(5), 1252; https://doi.org/10.3390/biomedicines13051252 - 21 May 2025
Viewed by 220
Abstract
Background/Objectives: Aortic stenosis (AS) is the most prevalent valvular disease among older adults. Although obstructive sleep apnea (OSA) has been linked to adverse cardiovascular outcomes, its specific impact on patients with severe AS remains unclear. This study aimed to determine the prevalence [...] Read more.
Background/Objectives: Aortic stenosis (AS) is the most prevalent valvular disease among older adults. Although obstructive sleep apnea (OSA) has been linked to adverse cardiovascular outcomes, its specific impact on patients with severe AS remains unclear. This study aimed to determine the prevalence of OSA and its influence on postoperative recovery following aortic valve replacement. Methods: A prospective case-control study was conducted at the Instituto Nacional de Cardiología Ignacio Chávez. Patients aged 40–80 years with echocardiographically confirmed severe AS were categorized into groups with and without OSA, based on respiratory polygraphy (Apnea–Hypopnea Index [AHI] threshold of >15 events per hour). Clinical, biochemical, echocardiographic, body composition, and hemodynamic parameters were assessed. Daytime sleepiness and sleep quality were evaluated using validated questionnaires. Inflammatory biomarkers were also analyzed. This study was approved by the institutional ethics committee. Results: Of the 30 patients included, 66.6% were diagnosed with OSA. Compared to non-OSA patients, those with OSA had a higher left ventricular mass index (160 vs. 108; p = 0.001), greater postoperative increases in central venous pressure [8 (8–10) vs. 8 (6–8); p = 0.037], and lower mixed venous oxygen saturation within the first 24 h (69.2 vs. 76; p = 0.027). OSA patients also had longer hospital stays (11 vs. 8 days; p = 0.014). Trends toward a heightened subclinical inflammatory state were noted in the OSA group. Conclusions: OSA is frequent and underdiagnosed in patients with severe AS and is associated with more complicated postoperative recovery. Systematic OSA screening is recommended for candidates undergoing aortic valve surgery. Full article
(This article belongs to the Special Issue Molecular and Translational Research in Cardiovascular Disease)
12 pages, 744 KiB  
Article
Actionable Variants of Unknown Significance in Inherited Arrhythmogenic Syndromes: A Further Step Forward in Genetic Diagnosis
by Estefanía Martínez-Barrios, Andrea Greco, José Cruzalegui, Sergi Cesar, Nuria Díez-Escuté, Patricia Cerralbo, Fredy Chipa, Irene Zschaeck, Miguel Fogaça-da-Mata, Carles Díez-López, Elena Arbelo, Simone Grassi, Antonio Oliva, Rocío Toro, Georgia Sarquella-Brugada and Oscar Campuzano
Biomedicines 2024, 12(11), 2553; https://doi.org/10.3390/biomedicines12112553 - 8 Nov 2024
Cited by 1 | Viewed by 1031
Abstract
Background/Objectives: Inherited arrhythmogenic syndromes comprise a heterogenic group of genetic entities that lead to malignant arrhythmias and sudden cardiac death. Genetic testing has become crucial to understand the disease etiology and allow for the early identification of relatives at risk; however, it requires [...] Read more.
Background/Objectives: Inherited arrhythmogenic syndromes comprise a heterogenic group of genetic entities that lead to malignant arrhythmias and sudden cardiac death. Genetic testing has become crucial to understand the disease etiology and allow for the early identification of relatives at risk; however, it requires an accurate interpretation of the data to achieve a clinically actionable outcome. This is particularly challenging for the large number of rare variants obtained by current high-throughput techniques, which are mostly classified as of unknown significance. Methods: In this work, we present a new algorithm for the genetic interpretation of the remaining rare variants in order to shed light on their potential clinical implications and reduce the burden of unknown significance. Results: Our study illustrates the potential utility of our individualized comprehensive stepwise analyses focused on the rare variants associated with IAS, which are currently classified as ambiguous, to further determine their trends towards pathogenicity or benign traits. Conclusions: We advocate for personalized disease-focused population frequency data and family segregation analyses for all rare variants that remain ambiguous to further clarify their role. The current ambiguity should not influence medical decisions, but a potential deleterious role would suggest a closer clinical follow-up and frequent genetic data review for a more personalized clinical approach. Full article
(This article belongs to the Special Issue Molecular and Translational Research in Cardiovascular Disease)
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