Genetically Triggered Thoracic Aortic Disease: Who Should be Tested?
Up to 25% of patients with thoracic aortic disease have an underlying Mendelian pathogenic variant. This is a heterogeneous group of disorders known as heritable thoracic aortic diseases (HTAD). Diagnosing associated pathogenic gene variants and syndromes is critical, as the underlying genetics have...
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| Format: | Article |
| Language: | English |
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Houston Methodist DeBakey Heart & Vascular Center
2023-03-01
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| Series: | Methodist DeBakey Cardiovascular Journal |
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| Online Access: | https://account.journal.houstonmethodist.org/index.php/up-j-mdbcj/article/view/1218 |
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| author | Valeria E. Duarte Raman Yousefzai Michael N. Singh |
| author_facet | Valeria E. Duarte Raman Yousefzai Michael N. Singh |
| author_sort | Valeria E. Duarte |
| collection | DOAJ |
| description | Up to 25% of patients with thoracic aortic disease have an underlying Mendelian pathogenic variant. This is a heterogeneous group of disorders known as heritable thoracic aortic diseases (HTAD). Diagnosing associated pathogenic gene variants and syndromes is critical, as the underlying genetics have an implication in medical management, surveillance, thresholds for surgical intervention, surgical risk, pregnancy risk, and risk of inheritance by the offspring. Recently released 2022 American College of Cardiology/American Heart Association guidelines for the diagnosis and management of aortic diseases provide specific recommendations to identify patients at risk for heritable conditions and who should undergo genetic testing. |
| format | Article |
| id | doaj-art-157163a2bdec4dda8697c11d2b50a8de |
| institution | Kabale University |
| issn | 1947-6108 |
| language | English |
| publishDate | 2023-03-01 |
| publisher | Houston Methodist DeBakey Heart & Vascular Center |
| record_format | Article |
| series | Methodist DeBakey Cardiovascular Journal |
| spelling | doaj-art-157163a2bdec4dda8697c11d2b50a8de2025-08-20T03:25:50ZengHouston Methodist DeBakey Heart & Vascular CenterMethodist DeBakey Cardiovascular Journal1947-61082023-03-01192242810.14797/mdcvj.12181195Genetically Triggered Thoracic Aortic Disease: Who Should be Tested?Valeria E. Duarte0https://orcid.org/0000-0001-6616-5412Raman Yousefzai1https://orcid.org/0000-0002-3275-0178Michael N. Singh2https://orcid.org/0000-0002-8667-9872Houston Methodist DeBakey Heart & Vascular Center, Houston, Texas; Boston Children’s Hospital, Boston, MassachusettsA.T. Still University-Kirksville College of Medicine (ATSU-KCOM), Kirksville, MissouriBoston Children’s Hospital and Harvard Medical School, Boston, Massachusetts; Brigham and Women’s Hospital, Harvard Medical School, Boston, MAUp to 25% of patients with thoracic aortic disease have an underlying Mendelian pathogenic variant. This is a heterogeneous group of disorders known as heritable thoracic aortic diseases (HTAD). Diagnosing associated pathogenic gene variants and syndromes is critical, as the underlying genetics have an implication in medical management, surveillance, thresholds for surgical intervention, surgical risk, pregnancy risk, and risk of inheritance by the offspring. Recently released 2022 American College of Cardiology/American Heart Association guidelines for the diagnosis and management of aortic diseases provide specific recommendations to identify patients at risk for heritable conditions and who should undergo genetic testing.https://account.journal.houstonmethodist.org/index.php/up-j-mdbcj/article/view/1218heritable thoracic aortic diseases (htad)thoracic aortic aneurysms (tad)marfan syndrome (mfs)genetic testingnonsyndromic htadgenetic variants |
| spellingShingle | Valeria E. Duarte Raman Yousefzai Michael N. Singh Genetically Triggered Thoracic Aortic Disease: Who Should be Tested? Methodist DeBakey Cardiovascular Journal heritable thoracic aortic diseases (htad) thoracic aortic aneurysms (tad) marfan syndrome (mfs) genetic testing nonsyndromic htad genetic variants |
| title | Genetically Triggered Thoracic Aortic Disease: Who Should be Tested? |
| title_full | Genetically Triggered Thoracic Aortic Disease: Who Should be Tested? |
| title_fullStr | Genetically Triggered Thoracic Aortic Disease: Who Should be Tested? |
| title_full_unstemmed | Genetically Triggered Thoracic Aortic Disease: Who Should be Tested? |
| title_short | Genetically Triggered Thoracic Aortic Disease: Who Should be Tested? |
| title_sort | genetically triggered thoracic aortic disease who should be tested |
| topic | heritable thoracic aortic diseases (htad) thoracic aortic aneurysms (tad) marfan syndrome (mfs) genetic testing nonsyndromic htad genetic variants |
| url | https://account.journal.houstonmethodist.org/index.php/up-j-mdbcj/article/view/1218 |
| work_keys_str_mv | AT valeriaeduarte geneticallytriggeredthoracicaorticdiseasewhoshouldbetested AT ramanyousefzai geneticallytriggeredthoracicaorticdiseasewhoshouldbetested AT michaelnsingh geneticallytriggeredthoracicaorticdiseasewhoshouldbetested |