Advanced Research on Inherited Aortic Diseases

A special issue of Cardiogenetics (ISSN 2035-8148). This special issue belongs to the section "Inherited Aortic Disease".

Deadline for manuscript submissions: closed (31 January 2024) | Viewed by 3386

Special Issue Editor


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Guest Editor
Dartmouth-Hitchcock Medical Center, Lebanon, IN, USA
Interests: cardiologiss diagnosis and treatment of heart diseases; congenital heart defects; coronary artery disease; heart rhythm disorders; heart failure

Special Issue Information

Dear Colleagues,

Inherited aortic diseases are a group of genetic disorders that affect the structure and function of the aorta, the largest artery in the body. These conditions include Marfan syndrome, Ehlers–Danlos syndrome, Loeys–Dietz syndrome, and familial thoracic aortic aneurysm and dissection. The aorta may become weakened, leading to the formation of aneurysms or dissections, both of which can be life-threatening if left untreated. The genetic basis of these conditions is well established, with mutations in genes encoding extracellular matrix proteins, in addition to the emergence of signaling receptors, being the most common causes.

Advanced research into inherited aortic diseases has focused in recent years on developin a better understanding of the pathophysiology of these conditions, identifying novel genetic mutations, developing effective diagnostic tools, and improving treatment strategies. Recent advances in molecular genetics and next-generation sequencing technologies have led to the identification of new genes associated with inherited aortic diseases, as well as the development of targeted therapies. In addition, new imaging techniques, such as computed tomography angiography and magnetic resonance imaging, have enabled earlier detection of aortic aneurysms and dissections, important breakthroughs which may improve patient outcomes.

Despite these advances, much remains to be learned about the underlying mechanisms of inherited aortic diseases, particularly with regards to genotype–phenotype correlations and the role of environmental factors. Further research into this field may lead to improved diagnostic and treatment strategies, as well as a better understanding of the genetic basis of other cardiovascular diseases.

Dr. Wassim Mosleh
Guest Editor

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. Cardiogenetics is an international peer-reviewed open access quarterly 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 1400 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
  • aorta
  • inherited
  • cardiogenetics
  • aneurysm
  • dissection pathophysiology
  • diagnosis
  • treatment

Published Papers (2 papers)

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Editorial

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4 pages, 197 KiB  
Editorial
Unraveling the Genetic and Epigenetic Complexities of Hereditary Aortic Diseases and the Breakthroughs of Precision Medicine: An Editorial
by Fares Awa, Mays Tawayha and Wassim Mosleh
Cardiogenetics 2023, 13(3), 113-116; https://doi.org/10.3390/cardiogenetics13030011 - 18 Jul 2023
Viewed by 1484
Abstract
The field of genetics in cardiovascular disease has introduced new possibilities for understanding the fundamental causes of aortic diseases [...] Full article
(This article belongs to the Special Issue Advanced Research on Inherited Aortic Diseases)

Review

Jump to: Editorial

19 pages, 1471 KiB  
Review
From Natural History to Contemporary Management of Aortic Diseases: A State-of-the-Art Review of Thoracic Aortic Aneurysm
by Yuliya Paulenka, Christopher Lee, Mays Tawayha, Sam Dow, Kajal Shah, Stanislav Henkin and Wassim Mosleh
Cardiogenetics 2023, 13(4), 154-172; https://doi.org/10.3390/cardiogenetics13040015 - 29 Nov 2023
Viewed by 1545
Abstract
Thoracic aortic aneurysms (TAAs) are commonly seen in cardiovascular practice. Acquired and genetic conditions contribute to TAA formation. The natural history of genetically mediated TAA underscores the importance of early detection, regular monitoring, and prompt treatment to prevent complications, including dissection or rupture. [...] Read more.
Thoracic aortic aneurysms (TAAs) are commonly seen in cardiovascular practice. Acquired and genetic conditions contribute to TAA formation. The natural history of genetically mediated TAA underscores the importance of early detection, regular monitoring, and prompt treatment to prevent complications, including dissection or rupture. The prognosis is poor in the event of acute dissection, with high rates of in-hospital mortality. Healthcare providers need to remain vigilant in their efforts to identify and surveil TAA to reduce the risk of complications. In this manuscript, we review the natural history of TAA, discuss the most common causes leading to the development of TAA, assess the value and limitations of diagnostic modalities, and review the management and long-term surveillance of patients with aortic disease. Full article
(This article belongs to the Special Issue Advanced Research on Inherited Aortic Diseases)
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