基因诊断如何为手术时机的决策提供依据？
How can genetic diagnosis inform the decision of when to operate?
作者信息
Ouzounian Maral, LeMaire Scott A
机构信息
Division of Cardiovascular Surgery, Peter Munk Cardiac Centre, Toronto General Hospital, Toronto, Canada.
Department of Surgery, University of Toronto, Toronto, Canada.
出版信息
J Vis Surg. 2018 Apr 3;4:68. doi: 10.21037/jovs.2018.03.08. eCollection 2018.
Abstract
Genetic discovery for heritable thoracic aortic disease (HTAD) has been progressing at a brisk pace. Surgical management of thoracic aortic aneurysms and dissections has become more personalized, with genetic factors increasingly informing the decision of when to operate on patients. An improved understanding of genotype-phenotype correlations in patients with HTAD will ultimately lead to gene- and mutation-specific recommendations for surgical repair. Until more robust data from larger cohorts can inform our decisions, patients with HTAD should be seen by an aortic specialist for a tailored approach to elective surgical repair.
摘要
遗传性胸主动脉疾病（HTAD）的基因研究进展迅速。胸主动脉瘤和主动脉夹层的外科治疗已变得更加个性化，遗传因素在决定患者何时进行手术方面发挥着越来越重要的作用。对HTAD患者基因型与表型相关性的深入了解最终将为手术修复提供针对特定基因和突变的建议。在有更强大的大规模队列数据为我们的决策提供依据之前，HTAD患者应由主动脉专科医生进行评估，以便采取量身定制的择期手术修复方法。
相似文献
1
How can genetic diagnosis inform the decision of when to operate?
J Vis Surg. 2018 Apr 3;4:68. doi: 10.21037/jovs.2018.03.08. eCollection 2018.
3
HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN.
Eur J Med Genet. 2023 Jan;66(1):104673. doi: 10.1016/j.ejmg.2022.104673. Epub 2022 Nov 29.
4
Genetically Triggered Thoracic Aortic Disease: Who Should be Tested?
Methodist Debakey Cardiovasc J. 2023 Mar 7;19(2):24-28. doi: 10.14797/mdcvj.1218. eCollection 2023.
5
Genetic screening in heritable thoracic aortic disease-rationale, potentials and pitfalls.
Indian J Thorac Cardiovasc Surg. 2022 Apr;38(Suppl 1):24-35. doi: 10.1007/s12055-020-01124-7. Epub 2021 Mar 2.
6
Genetics and Precision Medicine: Heritable Thoracic Aortic Disease.
Med Clin North Am. 2019 Nov;103(6):1005-1019. doi: 10.1016/j.mcna.2019.08.001. Epub 2019 Aug 31.
7
The Role of Genetic Testing in Patients with Heritable Thoracic Aortic Diseases.
Diagnostics (Basel). 2023 Feb 17;13(4):772. doi: 10.3390/diagnostics13040772.
8
Genetics of thoracic aortic aneurysm: at the crossroad of transforming growth factor-β signaling and vascular smooth muscle cell contractility.
Circ Res. 2013 Jul 19;113(3):327-40. doi: 10.1161/CIRCRESAHA.113.300675.
9
Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype.
Orphanet J Rare Dis. 2018 Mar 15;13(1):41. doi: 10.1186/s13023-018-0769-7.
10
Genomic Medicine Guidance: A Point-of-Care App for Heritable Thoracic Aortic Diseases.
medRxiv. 2023 Dec 26:2023.12.22.23299696. doi: 10.1101/2023.12.22.23299696.
引用本文的文献
1
Recommendations for Design, Execution, and Reporting of Studies on Experimental Thoracic Aortopathy in Preclinical Models.
Arterioscler Thromb Vasc Biol. 2025 May;45(5):609-631. doi: 10.1161/ATVBAHA.124.320259. Epub 2025 Mar 13.
2
A Comprehensive Review of Management Strategies for Bicuspid Aortic Valve (BAV): Exploring Epidemiology, Aetiology, Aortopathy, and Interventions in Light of Recent Guidelines.
J Cardiovasc Dev Dis. 2023 Sep 18;10(9):398. doi: 10.3390/jcdd10090398.
3
The impact of genetic factors and testing on operative indications and extent of surgery for aortopathy.
JTCVS Open. 2021 Mar 5;6:15-23. doi: 10.1016/j.xjon.2021.01.013. eCollection 2021 Jun.
4
Cardiac Surgery During the Coronavirus Disease 2019 Pandemic: Perioperative Considerations and Triage Recommendations.
J Am Heart Assoc. 2020 Jul 7;9(13):e017042. doi: 10.1161/JAHA.120.017042. Epub 2020 May 16.
5
Bicuspid aortic valve and aortic coarctation in congenital heart disease-important aspects for treatment with focus on aortic vasculopathy.
Cardiovasc Diagn Ther. 2018 Dec;8(6):780-788. doi: 10.21037/cdt.2018.09.20.
本文引用的文献
1
Genes Associated with Thoracic Aortic Aneurysm and Dissection: An Update and Clinical Implications.
Aorta (Stamford). 2017 Feb 1;5(1):11-20. doi: 10.12945/j.aorta.2017.17.003. eCollection 2017 Feb.
2
Fate of remnant sinuses of Valsalva in patients with bicuspid and trileaflet valves undergoing aortic valve, ascending aorta, and aortic arch replacement.
J Thorac Cardiovasc Surg. 2017 Aug;154(2):421-432. doi: 10.1016/j.jtcvs.2017.03.150. Epub 2017 Apr 28.
3
International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium).
Circ Cardiovasc Genet. 2016 Dec;9(6):548-558. doi: 10.1161/CIRCGENETICS.116.001485. Epub 2016 Nov 21.
4
The Aortic Root: Natural History After Root-Sparing Ascending Replacement in Nonsyndromic Aneurysmal Patients.
Ann Thorac Surg. 2017 Mar;103(3):828-833. doi: 10.1016/j.athoracsur.2016.06.081. Epub 2016 Sep 19.
5
Aortic disease and pregnancy.
Curr Opin Cardiol. 2016 Nov;31(6):611-617. doi: 10.1097/HCO.0000000000000336.
6
Hereditary Influence in Thoracic Aortic Aneurysm and Dissection.
Circulation. 2016 Jun 14;133(24):2516-28. doi: 10.1161/CIRCULATIONAHA.116.009762.
7
Recent progress in understanding the natural and clinical histories of the Marfan syndrome.
Trends Cardiovasc Med. 2016 Jul;26(5):423-8. doi: 10.1016/j.tcm.2015.12.003. Epub 2016 Jan 13.
8
Surgery for Aortic Dilatation in Patients With Bicuspid Aortic Valves: A Statement of Clarification From the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
J Am Coll Cardiol. 2016 Feb 16;67(6):724-731. doi: 10.1016/j.jacc.2015.11.006. Epub 2015 Dec 4.
9
Pregnancy and Thoracic Aortic Disease: Managing the Risks.
Can J Cardiol. 2016 Jan;32(1):78-85. doi: 10.1016/j.cjca.2015.09.003. Epub 2015 Sep 18.
10
Outcomes of Aortic Valve-Sparing Operations in Marfan Syndrome.
J Am Coll Cardiol. 2015 Sep 29;66(13):1445-53. doi: 10.1016/j.jacc.2015.07.041.
Zotero 插件