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

Int J Environ Res Public Health. 2023 Aug 20;20(16):6615. doi: 10.3390/ijerph20166615.

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: Loeys–Dietz syndrome; Marfan syndrome; aneurysm; dissection; syndromic aortic diseases; vascular Ehlers–Danlos syndrome.

Publication types

  • Review

MeSH terms

  • Aorta
  • Aortic Diseases*
  • Ehlers-Danlos Syndrome, Type IV*
  • Humans
  • Marfan Syndrome* / diagnosis
  • Marfan Syndrome* / genetics
  • Marfan Syndrome* / therapy
  • Quality of Life

Grants and funding

This research received no external funding.