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Aortic Disease: Pathophysiology, Surgical Management, and Long-Term Outcomes
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Aortic Disease: Pathophysiology, Surgical Management, and Long-Term Outcomes

A special issue of Journal of Cardiovascular Development and Disease (ISSN 2308-3425). This special issue belongs to the section "Acquired Cardiovascular Disease".

Deadline for manuscript submissions: 30 September 2026 | Viewed by 2288

Special Issue Editors

Dr. Daniel Paul Fudulu

E-Mail Website
Guest Editor
Bristol Heart Institute, University of Bristol, Upper Maudlin St., Bristol BS2 8HW, UK
Interests: aortic disease; coronary disease
Dr. Marco Gemelli

E-Mail Website
Guest Editor Assistant
Bristol Heart Institute, University of Bristol, Upper Maudlin St., Bristol BS2 8HW, UK
Interests: aortic disease; heart failure; coronary surgery

Special Issue Information

Dear Colleagues,

Aortic disease encompasses a broad spectrum of conditions ranging from genetic syndromes and degenerative aneurysms to acute aortic syndromes. These disorders remain a major cause of morbidity and mortality worldwide, with their incidence expected to rise due to aging populations and improved detection. The complexity of aortic pathology requires a comprehensive understanding of its underlying mechanisms, which range from molecular and biomechanical processes to systemic risk factors. Advances in imaging, genetics, and computational modeling are reshaping our knowledge of disease progression, while surgical and endovascular innovations have significantly expanded treatment options. However, challenges remain in defining the optimal timing of intervention, tailoring therapy to individual patients, and improving long-term outcomes.

In this Special Issue, we will explore the full continuum of aortic disease, ranging from pathophysiological insights to cutting-edge surgical strategies and robust long-term follow-up data. We welcome contributions on basic and translational research, novel diagnostic approaches, innovations in open and endovascular repair, perioperative management, and outcome prediction. Studies addressing registry data, multicenter collaborations, or multidisciplinary perspectives are particularly encouraged.

Dr. Daniel Paul Fudulu
Guest Editor

Dr. Marco Gemelli
Guest Editor Assistant

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-blind 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

  • aortic pathology
  • aortic aneurysm
  • acute aortic syndrome
  • aortic surgery
  • endovascular repair
  • long-term outcomes

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Published Papers (3 papers)

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Research

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15 pages, 1720 KB  
Article
Family-Wide Dysregulation of Phosphodiesterases Alters cAMP/cGMP Microdomains in Thoracic Aortic Aneurysm
by Dimitrios E. Magouliotis, Serge Sicouri, Vasiliki Androutsopoulou, Massimo Baudo, Francesco Cabrucci, Prokopis-Andreas Zotos, Andrew Xanthopoulos and Basel Ramlawi
J. Cardiovasc. Dev. Dis. 2026, 13(1), 23; https://doi.org/10.3390/jcdd13010023 - 1 Jan 2026
Viewed by 678
Abstract
Background: Thoracic aortic aneurysm (TAA) is driven by complex molecular mechanisms beyond size thresholds, yet the role of cyclic nucleotide metabolism remains unclear. Phosphodiesterases (PDEs), which hydrolyze cAMP and cGMP in compartmentalized microdomains, act as key regulators of vascular integrity and remodeling. Methods: [...] Read more.
Background: Thoracic aortic aneurysm (TAA) is driven by complex molecular mechanisms beyond size thresholds, yet the role of cyclic nucleotide metabolism remains unclear. Phosphodiesterases (PDEs), which hydrolyze cAMP and cGMP in compartmentalized microdomains, act as key regulators of vascular integrity and remodeling. Methods: We performed a hypothesis-driven, transcriptomic analysis of 20 PDE isoforms using the GSE26155 dataset (43 TAA vs. 43 controls). Raw microarray data underwent background correction, log2 transformation, and false-discovery adjustment. Differential expression, logistic regression, receiver-operating characteristic (ROC) curves, calibration testing, correlation analysis, and interactome/enrichment mapping were conducted. Results: Thirteen PDE isoforms were significantly dysregulated in TAA. Upregulated transcripts included PDE10A, PDE2A, PDE4B, PDE7A, and PDE8A, whereas PDE1A/B/C, PDE3B, PDE5A, PDE6C, and PDE8B were downregulated. PDE10A achieved excellent discrimination for TAA (AUC = 0.838), while other isoforms demonstrated fair discriminatory ability. Correlation architecture revealed coordinated regulation between PDE subfamilies, including inverse relationships between PDE2A and PDE8B (r = −0.68). Interactome analysis highlighted dense connections with cyclic nucleotide and purinergic signaling hubs, enriched in vascular tone, NO–cGMP–PKG, and junctional assembly pathways. Integrating these findings with epigenetic and junctional frameworks suggests that PDE dysregulation promotes endothelial barrier fragility and maladaptive smooth-muscle remodeling. Conclusions: Family-wide PDE dysregulation characterizes human TAA, with PDE10A emerging as a central transcriptomic signature. Altered cAMP/cGMP microdomain signaling aligns with junctional failure and epigenetic control, supporting the potential of PDE isoforms as biomarkers and therapeutic targets. These results provide experimental evidence that cyclic nucleotide hydrolysis is re-wired in TAA, supporting PDE10A as a novel biomarker and therapeutic target that bridges molecular dysregulation with clinical risk stratification in thoracic aortic disease. Full article
(This article belongs to the Special Issue Aortic Disease: Pathophysiology, Surgical Management, and Long-Term Outcomes)
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13 pages, 2146 KB  
Article
Intra-Patient Heterogeneity of Mechanical and Anatomical Properties in Thoracic Aortic Wall: An Ex Vivo Study Comparing Patients with Bicuspid and Tricuspid Aortic Valve Aortopathy
by Pasquale Totaro, Giulia Formenton, Martina Musto, Chiara Sciacca, Alessandro Caimi, Martina Schembri, Stefano Pelenghi and Ferdinando Auricchio
J. Cardiovasc. Dev. Dis. 2026, 13(1), 15; https://doi.org/10.3390/jcdd13010015 - 28 Dec 2025
Viewed by 346
Abstract
Background: The ex vivo evaluation of the aortic wall aims to identify potential risk factors predictive of acute aortic syndrome. The comparison of aortic wall properties in patients with bicuspid aortic disease versus those with tricuspid aortic disease has been the subject of [...] Read more.
Background: The ex vivo evaluation of the aortic wall aims to identify potential risk factors predictive of acute aortic syndrome. The comparison of aortic wall properties in patients with bicuspid aortic disease versus those with tricuspid aortic disease has been the subject of many studies. However, the heterogeneity of aortic wall characteristics in individual patients has never been thoroughly investigated. In this study, we focused on comparing the heterogeneity of aortic wall characteristics in patients with bicuspid (BAV) and tricuspid (TAV) aortic valve disease. Materials and Methods: Out of 113 patients enrolled in our cumulative study on the ex-vivo evaluation of the aortic wall, in patients with dilated ascending aorta, 56 patients with >3 specimens taken from the anterior wall were selected for the present study. The heterogeneity of anatomical characteristics (aortic wall thickness) was assessed by measuring the coefficient of variability (cV). In 35 patients, furthermore, mechanical (uniaxial ultimate stress–strain test) characteristics heterogeneity was also evaluated. Intra-patient mechanical and anatomical variability was then compared between the BAV and TAV groups. Results: Heterogeneity of aortic wall thickness was significantly less important compared to heterogeneity of mechanical properties: peak strain (Pstr p = 0.0042), peak stress (PS p = 0.001) and maximum elastic modulus (EM p = 0.001). Only EM heterogeneity was significantly reverse-correlated to patient’s age (p = 0.0005), and this correlation was peculiar for patients with BAV. In BAV patients, furthermore, age > 66 was associated with a significantly superior EM heterogeneity (p = 0.008). A direct comparison of anatomical and mechanical intra-patient variability between BAV and TAV groups, however, did not show significant differences. Discussion: Our study clearly demonstrates that the anatomical and mechanical characteristics of the aortic wall in patients with aortic dilation are not homogeneous. The heterogeneity of aortic wall thickness appears to be less significant than that of mechanical properties, thus confirming a limited correlation between anatomical and mechanical characteristics. The comparison between the BAV and TAV groups revealed limited peculiarities, further suggesting a preservation of the mechanical properties of the aortic wall in patients with bicuspid aortic disease and, therefore, without a peculiar mechanical properties-related increased risk of acute aortic syndrome. Full article
(This article belongs to the Special Issue Aortic Disease: Pathophysiology, Surgical Management, and Long-Term Outcomes)
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Review

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22 pages, 696 KB  
Review
Acute Aortic Dissection in Women: A Comprehensive Review of Sex-Specific Differences, Clinical Management, and Outcomes
by Vasiliki Androutsopoulou, Dimitrios E. Magouliotis, Andrew Xanthopoulos, Kalliopi Keramida, Metaxia Bareka, Konstantinos Stamoulis, Kosmas Tsakiridis, Thanos Athanasiou and John Skoularigis
J. Cardiovasc. Dev. Dis. 2026, 13(4), 158; https://doi.org/10.3390/jcdd13040158 - 3 Apr 2026
Viewed by 748
Abstract
Acute aortic dissection (AAD) is a life-threatening cardiovascular emergency characterized by important sex-related differences in presentation, management, and outcomes. Although women account for a smaller proportion of cases, they typically present at older ages and more frequently exhibit atypical symptoms, hemodynamic instability, and [...] Read more.
Acute aortic dissection (AAD) is a life-threatening cardiovascular emergency characterized by important sex-related differences in presentation, management, and outcomes. Although women account for a smaller proportion of cases, they typically present at older ages and more frequently exhibit atypical symptoms, hemodynamic instability, and complications such as pericardial effusion or tamponade, contributing to diagnostic delays and higher pre-hospital mortality. Beyond clinical factors, biological differences may influence disease expression in women. Menopause-associated vascular aging, hormonal modulation of extracellular matrix remodeling, and pregnancy-related hemodynamic and connective tissue changes may alter aortic wall integrity and susceptibility to dissection. Notably, women often experience dissection at smaller absolute aortic diameters, highlighting the potential importance of body-size indexing in risk stratification and surgical thresholds. In type A AAD, women are less likely to undergo extensive surgical repair in some cohorts, and although contemporary in-hospital mortality differences are narrowing, long-term survival disparities may persist. In type B AAD, women are more frequently managed conservatively, while outcomes following thoracic endovascular aortic repair appear broadly comparable between sexes. Pregnancy and the postpartum period represent particularly vulnerable windows, especially among patients with underlying heritable aortopathies. Greater awareness of sex-specific biological and clinical characteristics, incorporation of indexed aortic dimensions, and improved multidisciplinary management strategies are essential to optimize outcomes for women with acute aortic dissection. Full article
(This article belongs to the Special Issue Aortic Disease: Pathophysiology, Surgical Management, and Long-Term Outcomes)
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