Genetic Basis, New Diagnostic Approaches, and Updated Therapeutic Strategies of the Syndromic Aortic Diseases: Marfan, Loeys–Dietz, and Vascular Ehlers–Danlos Syndrome

Laura Asta (), Gianluca A. D’Angelo, Daniele Marinelli and Umberto Benedetto
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Laura Asta: Department of Cardiac Surgery, Tor Vergata University Hospital, 00133 Rome, Italy
Gianluca A. D’Angelo: Department of Cardiac Surgery, SS Annunziata Hospital, 66100 Chieti, Italy
Daniele Marinelli: Department of Cardiac Surgery, SS Annunziata Hospital, 66100 Chieti, Italy
Umberto Benedetto: Department of Cardiac Surgery, SS Annunziata Hospital, 66100 Chieti, Italy

IJERPH, 2023, vol. 20, issue 16, 1-16

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 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.

Keywords: aneurysm; dissection; Marfan syndrome; Loeys–Dietz syndrome; vascular Ehlers–Danlos syndrome; syndromic aortic diseases (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2023
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