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Diagnosis and Management of Aortic Diseases: Drafting from Theoretical Aspects...
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Diagnosis and Management of Aortic Diseases: Drafting from Theoretical Aspects to Clinical Practice

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Cardiovascular Medicine".

Deadline for manuscript submissions: closed (24 April 2024) | Viewed by 2907

Special Issue Editors

Dr. Mario D’Oria

E-Mail Website
Guest Editor
Division of Vascular and Endovascular Surgery, Cardiovascular Department, University Hospital of Trieste ASUGI, 34129 Trieste, Italy
Interests: aortic disease; aortic aneurysm; aortic dissection; aortic surgery; endovascular repair
Prof. Dr. Sandro Lepidi

E-Mail Website
Guest Editor
University Hospital of Trieste ASUGI, Trieste, Italy
Interests: vascular surgery; aortic disease; aortic aneurysm; aortic dissection; aortic surgery; endovascular repair

Special Issue Information

Dear Colleagues,

Aortic diseases can sometimes present as dramatic emergencies (including ruptured aneurysms, complicated dissections, and traumatic transections) that portend an immediate danger to patients’ life. The treatment of these critical scenarios has nowadays shifted towards increasingly complex surgical and endovascular techniques, owing to increased knowledge in many aspects including pathophysiology, imaging, as well as medical and invasive treatment.

The proposed collection “Diagnosis and Management of Aortic Diseases: Drafting from Theoretical Aspects to Clinical Practice” will encompass a selection of research works from experts in the field of aortic medicine, detailing various aspects for basic, clinical and translational research as they may apply to the diagnosis and treatment of aortic diseases. The collection is intended as a concise, yet comprehensive work that will aid surgeons in training as well as experienced practitioners in their everyday practice, providing up-to-date evidence on the topic of diagnosis and managament of aortic diseases.

Dr. Mario D’Oria
Prof. Dr. Sandro Lepidi
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. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly 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

  • aortic disease
  • aortic aneurysm
  • aortic dissection
  • aortic surgery

Published Papers (3 papers)

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Research

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13 pages, 1877 KiB  
Article
Evaluation of the Value of Histological Examination for the Prediction of Genetic Thoracic Proximal Aortopathies
by Adrian Mahlmann, Roman N. Rodionov, Christian-Alexander Behrendt, Jennifer Lynne Leip, Helmut Karl Lackner, Mohamed Eraqi, Nesma Elzanaty and Tamer Ghazy
J. Clin. Med. 2024, 13(7), 1838; https://doi.org/10.3390/jcm13071838 - 22 Mar 2024
Viewed by 435
Abstract
Background: Heritable connective tissue disorders are often accompanied by an increased risk for thoracic aortic aneurysm and dissection (TAAD). Profound knowledge of the underlying pathology may have an impact on individual treatment, systematic follow-up, and early detection by the screening of offspring. [...] Read more.
Background: Heritable connective tissue disorders are often accompanied by an increased risk for thoracic aortic aneurysm and dissection (TAAD). Profound knowledge of the underlying pathology may have an impact on individual treatment, systematic follow-up, and early detection by the screening of offspring. The aim of this study, based in a single high-volume tertiary center, was an analysis of the diagnostic validity of histopathologic findings in patients with TAAD due to these findings’ accuracy in diagnosing heritable connective tissue disorders. Methods: Therefore, genetic testing by next-generation sequencing (NGS) was performed to evaluate the correlations. In total, 65 patients with TAAD undergoing surgical treatment before the age of 60 years or with age up to 80 years if they had offspring at the time of the procedure were included in the analysis. Results: In our cohort, no certain correlation of histological findings to the results of genetic diagnostics in patients with clinically relevant aortic pathology could be shown. Patients with histopathologic findings for heritable connective tissue disorder and a positive gene variant were 11.6 years younger than patients without mutation and without histological evidence for connective tissue disorder. Conclusions: Genetic clarification is useful to define the specific genotype of the disease of the aortic wall in the case of non-specific histological characteristics. Full article
(This article belongs to the Special Issue Diagnosis and Management of Aortic Diseases: Drafting from Theoretical Aspects to Clinical Practice)
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12 pages, 1765 KiB  
Article
Prevalence of Genetic Variants and Deep Phenotyping in Patients with Thoracic Aortic Aneurysm and Dissection: A Cross-Sectional Single-Centre Cohort Study
by Adrian Mahlmann, Nesma Elzanaty, Mai Saleh, Marc Irqsusi, Ardawan Rastan, Jennifer Lynne Leip, Christian-Alexander Behrendt and Tamer Ghazy
J. Clin. Med. 2024, 13(2), 461; https://doi.org/10.3390/jcm13020461 - 14 Jan 2024
Cited by 1 | Viewed by 897
Abstract
Background: There is a paucity of evidence on people with thoracic aortic aneurysm and dissection. We aimed to determine the prevalence of genetic variants and their associations with phenotypes. Methods: In this cross-sectional single-centre cohort study of consecutive patients who underwent endovascular or [...] Read more.
Background: There is a paucity of evidence on people with thoracic aortic aneurysm and dissection. We aimed to determine the prevalence of genetic variants and their associations with phenotypes. Methods: In this cross-sectional single-centre cohort study of consecutive patients who underwent endovascular or open-surgical repair of thoracic aortic aneurysm and dissection, genetic analysis was performed using four-stage Next Generation Sequencing, and findings were confirmed with Sanger sequencing. We collected personal and family history on comorbidities, clinical examination, anthropometrics, skeletal deformities, joint function, and ophthalmological measures. Cardiovascular risk and phenotype scores were calculated. Results: Ninety-five patients were eligible (mean age 54 ± 9 years, 70% males, 56% aortic dissection). One-fifth had a family history of aortic disease. Furthermore, 95% and 54% had a phenotype score of ≤5 and ≤2, respectively. There were no significant differences in the distribution of phenotype characteristics according to age, sex, aortic pathology, or performed invasive procedures. Genetic variants of uncertain significance were detected in 40% of patients, with classic mutations comprising 18% of all variants. We observed no significant association with cardiovascular and phenotype scores but with higher joint function scores (p = 0.015). Conclusion: Genetic variants are highly present in clinically relevant aortic pathologies. Variants appear to play a larger role than previously described. The different variants do not correlate with specific phenotypes, age, pathology, sex, or family history. Full article
(This article belongs to the Special Issue Diagnosis and Management of Aortic Diseases: Drafting from Theoretical Aspects to Clinical Practice)
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Review

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18 pages, 1962 KiB  
Review
The Management of Ruptured Abdominal Aortic Aneurysms: An Ongoing Challenge
by Nicola Troisi, Giulia Bertagna, Lorenzo Torri, Francesco Canovaro, Mario D’Oria, Daniele Adami and Raffaella Berchiolli
J. Clin. Med. 2023, 12(17), 5530; https://doi.org/10.3390/jcm12175530 - 25 Aug 2023
Cited by 1 | Viewed by 1110
Abstract
Background: despite improvements in the diagnosis and treatment of elective AAAs, ruptured abdominal aortic aneurysms (RAAAs) continue to cause a substantial number of deaths. The choice between an open or endovascular approach remains a challenge, as does postoperative complications in survivors. The aim [...] Read more.
Background: despite improvements in the diagnosis and treatment of elective AAAs, ruptured abdominal aortic aneurysms (RAAAs) continue to cause a substantial number of deaths. The choice between an open or endovascular approach remains a challenge, as does postoperative complications in survivors. The aim of this manuscript is to offer an overview of the contemporary management of RAAA patients, with a focus on preoperative and intraoperative factors that could help surgeons provide more appropriate treatment. Methods: we performed a search on MEDLINE, Embase, and Scopus from 1 January 1985 to 1 May 2023 and reviewed SVS and ESVS guidelines. A total of 278 articles were screened, but only those with data available on ruptured aneurysms’ incidence and prevalence, preoperative scores, and mortality rates after emergency endovascular or open repair for ruptured AAA were included in the narrative synthesis. Articles were not restricted due to the designs of the studies. Results: the centralization of RAAAs has improved outcomes after both surgical and endovascular repair. Preoperative mortality risk scores and knowledge of intraoperative factors influencing mortality could help surgeons with decision-making, although there is still no consensus about the best treatment. Complications continue to be an issue in patients surviving intervention. Conclusions: RAAA still represents a life-threatening condition, with high mortality rates. Effective screening and centralization matched with adequate preoperative risk–benefit assessment may improve outcomes. Full article
(This article belongs to the Special Issue Diagnosis and Management of Aortic Diseases: Drafting from Theoretical Aspects to Clinical Practice)
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