VASCERN HTAD European Reference Centre, Department of Cardiology and Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
VASCERN HTAD European Reference Centre, Centre National Maladies Rares pour le Syndrome de Marfan et apparente[Combining Acute Accent]s.
Curr Opin Cardiol. 2019 Nov;34(6):585-593. doi: 10.1097/HCO.0000000000000669.
Although the majority of thoracic aortic aneurysms and dissections (TAD) in the overall population are mainly related to arterial hypertension and atherosclerosis, Heritable Thoracic Aortic Disease (HTAD) are increasingly recognized, especially in younger individuals. As fatal events in the setting of HTAD are preventable with timely detection and appropriate management, this review aims to provide an overview of the genetic basis of HTAD and practical recommendations for genetic evaluation in this setting.
Thanks in part to a number of important efforts to set up (inter)national networks and consortia for collecting clinical and genetic data from patients with these rare disorders, significant progress has been made in understanding the natural evolution of these disorders. These insights are now starting to enable the development of recommendations for the management of these patients.In addition, pathogenic variants in a number of new genes have been identified in HTAD patients. On the basis of more extensive genetic screening in cohorts of patients with TAD, it is becoming clear that there is no strict boundary between syndromal and nonsyndromal HTAD entities. It is, therefore, important to at least consider genetic evaluation, not only for patients presenting with syndromic forms but also for more isolated TAD.Finally, there are indications that we will -- up to a certain point -- soon be able to draw up a more precise policy for individual patients, based on the underlying genetic defects SUMMARY: Genetic evaluation in (young) patients with both syndromic and nonsyndromic forms of HTAD should be considered and is helpful for the development of more precise medicine.
尽管大多数胸主动脉瘤和夹层（TAD）在一般人群中主要与动脉高血压和动脉粥样硬化有关，但遗传性胸主动脉疾病（HTAD）越来越受到重视，尤其是在年轻人中。由于 HTAD 患者中的致命事件可以通过及时发现和适当管理来预防，因此本综述旨在概述 HTAD 的遗传基础，并为该环境中的遗传评估提供实用建议。
部分原因是为了收集这些罕见疾病患者的临床和遗传数据而设立（国际）网络和联盟的一些重要努力，在了解这些疾病的自然演变方面取得了重大进展。这些新的认识现在开始使这些患者的管理建议得以发展。此外，HTAD 患者中已发现一些新基因的致病性变异。在对 TAD 患者队列进行更广泛的遗传筛查的基础上，很明显，综合征和非综合征 HTAD 实体之间没有严格的界限。因此，重要的是，不仅要考虑有综合征表现的患者，而且要考虑更为孤立的 TAD 患者，至少要考虑遗传评估。最后，有迹象表明，我们将——在一定程度上——能够根据潜在的遗传缺陷为个别患者制定更精确的治疗方案。
对于有综合征和非综合征形式的 HTAD 的（年轻）患者，应考虑进行遗传评估，这有助于制定更精确的个体化治疗方案。
