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Genetics of Congenital Heart Disease
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The Genetics of Thoracic Aortic Aneurysms and Dissection: A Clinical Perspective

1
Aortic Institute at Yale-New Haven Hospital, Yale University School of Medicine, New Haven, CT 06510, USA
2
Department of Cardiovascular and Endovascular Surgery, Kazan State Medical University, 420012 Kazan, Russia
*
Author to whom correspondence should be addressed.
Biomolecules 2020, 10(2), 182; https://doi.org/10.3390/biom10020182
Received: 26 November 2019 / Revised: 14 January 2020 / Accepted: 16 January 2020 / Published: 24 January 2020
(This article belongs to the Special Issue Genetics of Cardiovascular Disorders)
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. View Full-Text
Keywords: thoracic aortic aneurysm and dissection (TAAD); genetics; genetic screening; syndromic TAAD; non-syndromic TAAD thoracic aortic aneurysm and dissection (TAAD); genetics; genetic screening; syndromic TAAD; non-syndromic TAAD
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Ostberg, N.P.; Zafar, M.A.; Ziganshin, B.A.; Elefteriades, J.A. The Genetics of Thoracic Aortic Aneurysms and Dissection: A Clinical Perspective. Biomolecules 2020, 10, 182.

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