Unit of Cardiology, University Hospital of Ferrara, Ferrara, Italy.
Unit of Cardiology, University Hospital of Ferrara, Ferrara, Italy -
Minerva Cardiol Angiol. 2023 Dec;71(6):611-621. doi: 10.23736/S2724-5683.23.06184-7. Epub 2023 Mar 20.
Marfan Syndrome (MFS) is a rare and complex genetic disorder associated with increased aortic growth and aortic disease. The effectiveness of cardiovascular medical therapies aiming to slow down aortic growth has been tested in several trials, particularly beta-blockers and angiotensin receptor blockers, however showing conflicting results.
We conducted a systematic review on PubMed (Medline), Cochrane library, Google Scholar, and Biomed Central databases between January and February 2022. We selected relevant articles focusing on patients with MFS treated with beta-blockers, angiotensin receptors blockers, or both, and reporting data on the effect of the drugs on 1) slowing down aortic dilatation; 2) the reduction of aortic complication (aortic dissection, mortality, aortic surgery); and with a 3) follow-up length of at least two years. A total of 16 studies were selected.
Beta-blockers remain the mainstay of therapy as they have proven to slow aortic enlargement. Angiotensin receptor blockers are a useful alternative and with proven benefit as an add-on therapy to limit aortic growth. Neither beta-blockers, nor angiotensin receptor blockers have shown meaningful results on clinical aortic endpoints.
The current evidence of pharmacological treatment for MFS patients is conflicting due to the lack of large, randomized clinical trials with adequate follow-up studies and homogeneous age grouping. Beta-blockers and angiotensin receptor blockers are the only available treatments to reduce aortic growth. A recently published patient-level meta-analysis confirmed that angiotensin receptor blockers and beta-blockers have a similar effect on reducing the rate of increase of the aortic root Z score, used singularly or as add-on therapy. Considering the current evidence on new features related with MFS (such as mitral annular disjunction - MAD) bearing a potential additional increased arrhythmic risk, it is of paramount importance to establish the role of beta-blockers and angiotensin receptor blockers in clinical endpoints of this population as well.
马凡综合征（MFS）是一种罕见且复杂的遗传性疾病，与主动脉生长和主动脉疾病有关。几种临床试验已经测试了旨在减缓主动脉生长的心血管药物治疗的有效性，特别是β受体阻滞剂和血管紧张素受体阻滞剂，但结果相互矛盾。
我们在 2022 年 1 月至 2 月期间在 PubMed（医学文献在线数据库）、Cochrane 图书馆、Google Scholar 和 Biomed Central 数据库中进行了系统评价。我们选择了专注于接受β受体阻滞剂、血管紧张素受体阻滞剂或两者治疗的 MFS 患者的相关文章，并报告了药物对以下方面的影响的数据：1）减缓主动脉扩张；2）减少主动脉并发症（主动脉夹层、死亡率、主动脉手术）；3）随访时间至少两年。共选择了 16 项研究。
β受体阻滞剂仍然是治疗的主要方法，因为它们已被证明可以减缓主动脉扩大。血管紧张素受体阻滞剂是一种有用的替代方法，并且作为附加治疗方法具有限制主动脉生长的益处。β受体阻滞剂和血管紧张素受体阻滞剂均未在临床主动脉终点上显示出有意义的结果。
由于缺乏具有足够随访研究和同质年龄分组的大型随机临床试验，目前 MFS 患者药物治疗的证据相互矛盾。β受体阻滞剂和血管紧张素受体阻滞剂是减少主动脉生长的唯一可用治疗方法。最近发表的一项患者水平荟萃分析证实，血管紧张素受体阻滞剂和β受体阻滞剂单独或作为附加治疗在降低主动脉根部 Z 评分增加率方面具有相似的效果。考虑到与 MFS 相关的新特征（例如二尖瓣环分离-MAD）具有潜在的额外心律失常风险，确定β受体阻滞剂和血管紧张素受体阻滞剂在该人群的临床终点中的作用至关重要。
