Article ; Online: Genetic Basis, New Diagnostic Approaches, and Updated Therapeutic Strategies of the Syndromic Aortic Diseases: Marfan, Loeys-Dietz, and Vascular Ehlers-Danlos Syndrome.
International journal of environmental research and public health
2023 Volume 20, Issue 16
Abstract: Syndromic aortic diseases (SADs) encompass various pathological manifestations affecting the aorta caused by known genetic factors, such as aneurysms, dissections, and ruptures. However, the genetic mutation underlying aortic pathology also gives rise to ...
Abstract | Syndromic aortic diseases (SADs) encompass various pathological manifestations affecting the aorta caused by known genetic factors, such as aneurysms, dissections, and ruptures. However, the genetic mutation underlying aortic pathology also gives rise to clinical manifestations affecting other vessels and systems. As a consequence, the main syndromes currently identified as Marfan, Loeys-Dietz, and vascular Ehlers-Danlos are characterized by a complex clinical picture. In this contribution, we provide an overview of the genetic mutations currently identified in order to have a better understanding of the pathogenic mechanisms. Moreover, an update is presented on the basis of the most recent diagnostic criteria, which enable an early diagnosis. Finally, therapeutic strategies are proposed with the goal of improving the rates of patient survival and the quality of life of those affected by these SADs. |
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MeSH term(s) | Humans ; Ehlers-Danlos Syndrome, Type IV ; Marfan Syndrome/diagnosis ; Marfan Syndrome/genetics ; Marfan Syndrome/therapy ; Quality of Life ; Aortic Diseases ; Aorta |
Language | English |
Publishing date | 2023-08-20 |
Publishing country | Switzerland |
Document type | Journal Article ; Review |
ZDB-ID | 2175195-X |
ISSN | 1660-4601 ; 1661-7827 |
ISSN (online) | 1660-4601 |
ISSN | 1661-7827 |
DOI | 10.3390/ijerph20166615 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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