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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| Format: | Article |
| Language: | English |
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MDPI AG
2022-02-01
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| Series: | Cardiogenetics |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2035-8148/12/1/6 |
| _version_ | 1797472486148800512 |
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| author | Efstathios Papatheodorou Dimitrios Degiannis Aris Anastasakis |
| author_facet | Efstathios Papatheodorou Dimitrios Degiannis Aris Anastasakis |
| author_sort | Efstathios Papatheodorou |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-09T20:02:25Z |
| format | Article |
| id | doaj.art-f658343c462e4db8a108162895e34edb |
| institution | Directory Open Access Journal |
| issn | 2035-8253 2035-8148 |
| language | English |
| last_indexed | 2024-03-09T20:02:25Z |
| publishDate | 2022-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cardiogenetics |
| spelling | doaj.art-f658343c462e4db8a108162895e34edb2023-11-24T00:41:36ZengMDPI AGCardiogenetics2035-82532035-81482022-02-01121637910.3390/cardiogenetics12010006Genetics of Heritable Thoracic Aortic DiseaseEfstathios Papatheodorou0Dimitrios Degiannis1Aris Anastasakis2Unit of Inherited and Rare Cardiovascular Diseases, Onassis Cardiac Surgery Center, Siggrou Avenue 356, Kallithea, 17674 Athens, GreeceGreek National Network for Precision Medicine in Cardiology and Prevention of Sudden Cardiac Death in the Young, 17674 Kallithea, GreeceUnit of Inherited and Rare Cardiovascular Diseases, Onassis Cardiac Surgery Center, Siggrou Avenue 356, Kallithea, 17674 Athens, GreeceGenetic 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.https://www.mdpi.com/2035-8148/12/1/6aortopathybicuspid aortic valvefamilial thoracic aneurysmMarfan syndromeLoeys–Dietz syndromeaortic dissection |
| spellingShingle | Efstathios Papatheodorou Dimitrios Degiannis Aris Anastasakis Genetics of Heritable Thoracic Aortic Disease Cardiogenetics aortopathy bicuspid aortic valve familial thoracic aneurysm Marfan syndrome Loeys–Dietz syndrome aortic dissection |
| title | Genetics of Heritable Thoracic Aortic Disease |
| title_full | Genetics of Heritable Thoracic Aortic Disease |
| title_fullStr | Genetics of Heritable Thoracic Aortic Disease |
| title_full_unstemmed | Genetics of Heritable Thoracic Aortic Disease |
| title_short | Genetics of Heritable Thoracic Aortic Disease |
| title_sort | genetics of heritable thoracic aortic disease |
| topic | aortopathy bicuspid aortic valve familial thoracic aneurysm Marfan syndrome Loeys–Dietz syndrome aortic dissection |
| url | https://www.mdpi.com/2035-8148/12/1/6 |
| work_keys_str_mv | AT efstathiospapatheodorou geneticsofheritablethoracicaorticdisease AT dimitriosdegiannis geneticsofheritablethoracicaorticdisease AT arisanastasakis geneticsofheritablethoracicaorticdisease |