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 1299

Special Issue Editors


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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
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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

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Keywords

  • cardiovascular disease
  • heart failure
  • atrial fibrillation
  • arrhythmias
  • lon channels
  • sleep apnea

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Published Papers (1 paper)

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Research

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 998
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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