Genetics of Heritable Thoracic Aortic Disease

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...

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Bibliographic Details
Published in:	Cardiogenetics Vol. 12; no. 1; pp. 63 - 79
Main Authors:	Papatheodorou, Efstathios, Degiannis, Dimitrios, Anastasakis, Aris
Format:	Journal Article
Language:	English
Published:	Caserta MDPI AG 01-03-2022
Subjects:	Aortic aneurysms Aortic dissection aortopathy Beta blockers bicuspid aortic valve Cardiology Coronary vessels Extracellular matrix familial thoracic aneurysm Family medical history Genotype & phenotype Loeys–Dietz syndrome Marfan syndrome Medical prognosis Pregnancy Scoliosis Surgery
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Summary:	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.
ISSN:	2035-8148 2035-8253 2035-8148
DOI:	10.3390/cardiogenetics12010006