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

Asta, Laura; D’Angelo, Gianluca A.; Marinelli, Daniele; Benedetto, Umberto

doi:10.3390/ijerph20166615

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

¹

Department of Cardiac Surgery, Tor Vergata University Hospital, 00133 Rome, Italy

²

Department of Cardiac Surgery, SS Annunziata Hospital, 66100 Chieti, Italy

^*

Author to whom correspondence should be addressed.

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

Submission received: 29 May 2023 / Revised: 8 August 2023 / Accepted: 11 August 2023 / Published: 20 August 2023

(This article belongs to the Special Issue New Advances in the Diagnosis and Treatment of Congenital Heart Disease)

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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

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MDPI and ACS Style

Asta, L.; D’Angelo, G.A.; Marinelli, D.; Benedetto, U. 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, 20, 6615. https://doi.org/10.3390/ijerph20166615

AMA Style

Asta L, D’Angelo GA, Marinelli D, Benedetto U. 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; 20(16):6615. https://doi.org/10.3390/ijerph20166615

Chicago/Turabian Style

Asta, Laura, Gianluca A. D’Angelo, Daniele Marinelli, and Umberto Benedetto. 2023. "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 20, no. 16: 6615. https://doi.org/10.3390/ijerph20166615

APA Style

Asta, L., D’Angelo, G. A., Marinelli, D., & Benedetto, U. (2023). 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, 20(16), 6615. https://doi.org/10.3390/ijerph20166615

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

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