دورية أكاديمية
Update on the genetic risk for thoracic aortic aneurysms and acute aortic dissections: implications for clinical care.
| العنوان: | Update on the genetic risk for thoracic aortic aneurysms and acute aortic dissections: implications for clinical care. |
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| المؤلفون: | Milewicz DM; McGovern Medical School, Division of Medical Genetics, Department of Internal Medicine, University of Texas Health Science Center, Houston, TX, USA - dianna.m.milewicz@uth.tmc.edu., Guo D; McGovern Medical School, Division of Medical Genetics, Department of Internal Medicine, University of Texas Health Science Center, Houston, TX, USA., Hostetler E; McGovern Medical School, Division of Medical Genetics, Department of Internal Medicine, University of Texas Health Science Center, Houston, TX, USA., Marin I; McGovern Medical School, Division of Medical Genetics, Department of Internal Medicine, University of Texas Health Science Center, Houston, TX, USA., Pinard AC; McGovern Medical School, Division of Medical Genetics, Department of Internal Medicine, University of Texas Health Science Center, Houston, TX, USA., Cecchi AC; McGovern Medical School, Division of Medical Genetics, Department of Internal Medicine, University of Texas Health Science Center, Houston, TX, USA. |
| المصدر: | The Journal of cardiovascular surgery [J Cardiovasc Surg (Torino)] 2021 Jun; Vol. 62 (3), pp. 203-210. Date of Electronic Publication: 2021 Mar 18. |
| نوع المنشور: | Journal Article; Review |
| اللغة: | English |
| بيانات الدورية: | Publisher: Edizioni Minerva Medica Country of Publication: Italy NLM ID: 0066127 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1827-191X (Electronic) Linking ISSN: 00219509 NLM ISO Abbreviation: J Cardiovasc Surg (Torino) Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Torino : Edizioni Minerva Medica |
| مواضيع طبية MeSH: | Genetic Predisposition to Disease*, Aortic Dissection/*genetics , Aortic Aneurysm, Thoracic/*genetics, Acute Disease ; Humans ; Risk Factors |
| مستخلص: | Genetic variation plays a significant role in predisposing individuals to thoracic aortic aneurysms and dissections. Advances in genomic research have led to the discovery of 11 genes validated to cause heritable thoracic aortic disease (HTAD). Identifying the pathogenic variants responsible for aortic disease in affected patients confers substantial clinical utility by establishing a definitive diagnosis to inform tailored treatment and management, and enables identification of at-risk relatives to prevent downstream morbidity and mortality. The availability and access to clinical genetic testing has improved dramatically such that genetic testing is considered an integral part of the clinical evaluation for patients with thoracic aortic disease. This review provides an update on our current understanding of the genetic basis of thoracic aortic disease, practical recommendations for genetic testing, and clinical implications. |
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| معلومات مُعتمدة: | R01 HL109942 United States HL NHLBI NIH HHS; R01 HL146583 United States HL NHLBI NIH HHS |
| تواريخ الأحداث: | Date Created: 20210319 Date Completed: 20210511 Latest Revision: 20240628 |
| رمز التحديث: | 20240628 |
| مُعرف محوري في PubMed: | PMC8513124 |
| DOI: | 10.23736/S0021-9509.21.11816-6 |
| PMID: | 33736427 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1827-191X |
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| DOI: | 10.23736/S0021-9509.21.11816-6 |