The Genetics of Thoracic Aortic Aneurysms and Dissection: A Clinical Perspective.

Authors:
Mohammad A Zafar, MBBS
Mohammad A Zafar, MBBS
Aortic Institute at Yale-New Haven Hospital
Research Director
New Haven, CT | United States

Biomolecules 2020 Jan 24;10(2). Epub 2020 Jan 24.

Aortic Institute at Yale-New Haven Hospital, Yale University School of Medicine, New Haven, CT 06510, USA.

Thoracic aortic aneurysm and dissection (TAAD) affects many patients globally and has high mortality rates if undetected. Once thought to be solely a degenerative disease that afflicted the aorta due to high pressure and biomechanical stress, extensive investigation of the heritability and natural history of TAAD has shown a clear genetic basis for the disease. Here, we review both the cellular mechanisms and clinical manifestations of syndromic and non-syndromic TAAD. We particularly focus on genes that have been linked to dissection at diameters <5.0 cm, the current lower bound for surgical intervention. Genetic screening tests to identify patients with TAAD associated mutations that place them at high risk for dissection are also discussed.

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Source
http://dx.doi.org/10.3390/biom10020182DOI Listing
January 2020

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