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Genetics of Heritable Thoracic Aortic Disease

1
Unit of Inherited and Rare Cardiovascular Diseases, Onassis Cardiac Surgery Center, Siggrou Avenue 356, Kallithea, 17674 Athens, Greece
2
Molecular and Clinical Sciences Research Institute, St George’s University of London, London SW17 0RE, UK
3
Greek National Network for Precision Medicine in Cardiology and Prevention of Sudden Cardiac Death in the Young, 17674 Kallithea, Greece
4
Molecular Immunopathology and Histocompatibility Unit, Division of Genetics, Onassis Cardiac Surgery Center, 17674 Athens, Greece
*
Author to whom correspondence should be addressed.
Academic Editor: Giuseppe Limongelli
Cardiogenetics 2022, 12(1), 63-79; https://doi.org/10.3390/cardiogenetics12010006
Received: 27 December 2021 / Revised: 24 January 2022 / Accepted: 31 January 2022 / Published: 4 February 2022
(This article belongs to the Special Issue Cardiogenetics: Feature Papers 2021)
Genetic testing plays an increasing diagnostic and prognostic role in the management of patients with heritable thoracic aortic disease (HTAD). The identification of a specific variant can establish or confirm the diagnosis of syndromic HTAD, dictate extensive evaluation of the arterial tree in HTAD with known distal vasculature involvement and justify closer follow-up and earlier surgical intervention in HTAD with high risk of dissection of minimal or normal aortic size. Evolving phenotype–genotype correlations lead us towards more precise and individualized management and treatment of patients with HTAD. In this review, we present the latest evidence regarding the role of genetics in patients with HTAD. View Full-Text
Keywords: aortopathy; bicuspid aortic valve; familial thoracic aneurysm; Marfan syndrome; Loeys–Dietz syndrome; aortic dissection; heritable thoracic aortic disease aortopathy; bicuspid aortic valve; familial thoracic aneurysm; Marfan syndrome; Loeys–Dietz syndrome; aortic dissection; heritable thoracic aortic disease
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MDPI and ACS Style

Papatheodorou, E.; Degiannis, D.; Anastasakis, A. Genetics of Heritable Thoracic Aortic Disease. Cardiogenetics 2022, 12, 63-79. https://doi.org/10.3390/cardiogenetics12010006

AMA Style

Papatheodorou E, Degiannis D, Anastasakis A. Genetics of Heritable Thoracic Aortic Disease. Cardiogenetics. 2022; 12(1):63-79. https://doi.org/10.3390/cardiogenetics12010006

Chicago/Turabian Style

Papatheodorou, Efstathios, Dimitrios Degiannis, and Aris Anastasakis. 2022. "Genetics of Heritable Thoracic Aortic Disease" Cardiogenetics 12, no. 1: 63-79. https://doi.org/10.3390/cardiogenetics12010006

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