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Clin Med Insights Cardiol. 2017 May 30;11:1179546817709787. doi: 10.1177/1179546817709787. eCollection 2017.

The Genetics of Aortopathies in Clinical Cardiology.

Author information

Department of Medicine, School of Medicine, Johns Hopkins University, Baltimore, MD, USA.
Division of Cardiology, Department of Medicine, School of Medicine, Johns Hopkins University, Baltimore, MD, USA.
Yale Cardiovascular Genetics Program, Yale Cardiovascular Research Center, Department of Internal Medicine, Yale School of Medicine, Yale University, New Haven, CT, USA.


Aortopathies pose a significant healthcare burden due to excess early mortality, increasing incidence, and underdiagnosis. Understanding the underlying genetic causes, early diagnosis, timely surveillance, prophylactic repair, and family screening are keys to addressing these diseases. Next-generation sequencing continues to expand our understanding of the genetic causes of heritable aortopathies, rapidly clarifying their underlying molecular pathophysiology and suggesting new potential therapeutic targets. This review will summarize the pathogenetic mechanisms and management of heritable genetic aortopathies with attention to specific forms of both syndromic and nonsyndromic disorders, including Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, and familial thoracic aortic aneurysm and dissection.


Loeys-Dietz syndrome; Marfan syndrome; Thoracic aortic aneurysm; familial thoracic aortic aneurysm and dissection; genetic aortopathy; vascular Ehlers-Danlos syndrome

Conflict of interest statement

DECLARATION OF CONFLICTING INTERESTS: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article. Disclosures and Ethics As a requirement of publication, author(s) have provided to the publisher signed confirmation of compliance with legal and ethical obligations including but not limited to the following: authorship and contributorship, conflicts of interest, privacy and confidentiality, and (where applicable) protection of human and animal research subjects. The authors have read and confirmed their agreement with the ICMJE authorship and conflict of interest criteria. The authors have also confirmed that this article is unique and not under consideration or published in any other publication, and that they have permission from rights holders to reproduce any copyrighted material. Any disclosures are made in this section.

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