Cardiology Division and Cardiovascular Genetics Program, Massachusetts General Hospital, Boston, MA, USA.
Curr Cardiol Rep. 2021 Jan 21;23(2):10. doi: 10.1007/s11886-020-01435-6.
Thoracic aortic aneurysms (TAA) have a strong heritable basis, and identification of a genetic etiology has important implications for patients with TAA and their relatives. This review provides an overview of Mendelian causes of TAA, discusses important considerations for genetic testing, and summarizes the impact a genetic diagnosis may have on a patient's medical care.
Thoracic aortic disease may be non-syndromic or seen as part of a genetic syndrome, such as Marfan syndrome, Loeys-Dietz syndrome, or vascular Ehlers-Danlos syndrome. Expanded access to genetic testing has revealed the wide and overlapping phenotypic spectrum of these conditions, highlighting the need for genetic testing to establish an accurate diagnosis. Important aspects of genetic evaluation include thorough phenotyping through family history and physical examination, selection of an appropriate genetic test driven by the patient's phenotype, and careful interpretation of genetic test results. Improved understanding of the natural history of these conditions has led to tailored management recommendations, including gene-based recommendations for prophylactic surgical repair. Identification of a genetic etiology allows for careful monitoring of disease progression, informs the timing of prophylactic surgical repair, and facilitates the identification of other at-risk relatives through cascade genetic testing.
胸主动脉瘤（TAA）具有很强的遗传性基础，确定其遗传病因对 TAA 患者及其亲属具有重要意义。本文综述了 TAA 的孟德尔病因，讨论了基因检测的重要注意事项，并总结了基因诊断可能对患者医疗护理产生的影响。
胸主动脉疾病可能是非综合征性的，也可能是马凡综合征、Loeys-Dietz 综合征或血管型 Ehlers-Danlos 综合征等遗传综合征的一部分。基因检测的广泛应用揭示了这些疾病广泛且重叠的表型谱，强调了基因检测在确立准确诊断中的必要性。基因评估的重要方面包括通过家族史和体格检查进行彻底的表型分析、根据患者的表型选择适当的基因检测、以及仔细解释基因检测结果。对这些疾病自然史的认识不断提高，导致了针对性的管理建议，包括基于基因的预防性手术修复建议。确定遗传病因可以帮助患者密切监测疾病进展，告知预防性手术修复的时机，并通过级联基因检测识别其他高危亲属。
