多灶性肌纤维发育不良患者主动脉受累患病率：单中心回顾性研究
该单中心回顾性研究纳入 2019 年 1 月至 2024 年 7 月间 360 例接受完整主动脉横断面影像检查的多灶性肌纤维发育不良（FMD）成人患者，其中女性 353 例（98.1%）。结果显示 36 例（10.0%；95% CI 7.3%-13.5%）存在主动脉异常，以胸主动脉扩张或动脉瘤为主。研究结果支持对 FMD 患者进行从头至骨盆的影像学筛查建议。
要点
- 多灶性 FMD 患者中 10% 存在主动脉异常，主要为胸主动脉扩张或动脉瘤。
- 主动脉瘤与扩张均位于近端胸主动脉，无主动脉狭窄发现。
- 存在主动脉受累者更可能为男性且合并非主动脉动脉瘤。
核心结论
- 在完整主动脉影像检查的多灶性 FMD 患者中，10.0%（95% CI 7.3%-13.5%）存在主动脉异常，以胸主动脉扩张或动脉瘤为主，支持对 FMD 患者进行从头至骨盆的影像学筛查。
研究设计与样本
- 单中心、回顾性病历审查，纳入 2019 年 1 月至 2024 年 7 月间就诊的多灶性 FMD 患者。
- 纳入标准为年龄 ≥18 岁且具有完整主动脉横断面影像检查的患者，共 360 例，其中女性 353 例（98.1%）。
- 收集人口学资料、病史、家族史及血管表型，对主动脉病理进行分类，包括动脉瘤、扩张、夹层、狭窄和先天性解剖异常。
主要发现
- 360 例患者中 36 例（10.0%；95% CI 7.3%-13.5%）存在主动脉受累，其中 3 例急性主动脉综合征（<1%）、8 例动脉瘤（2.2%）、17 例扩张（4.7%）、9 例先天性异常（2.5%）。
- 所有主动脉动脉瘤和扩张均位于近端胸主动脉（8 例位于主动脉根部，17 例位于升主动脉），未发现主动脉狭窄。
- 9 例先天性异常中，7 例为迷走右锁骨下动脉，1 例为动脉导管憩室，1 例为主动脉缩窄。
- 在 36 例主动脉受累患者中，3 例（8.3%）为男性，4 例（11.1%）有动脉瘤家族史，2 例（5.6%）有夹层家族史，9 例接受主动脉病临床基因检测且结果均为阴性。
- 与无主动脉受累者相比，主动脉受累者更可能为男性且存在非主动脉动脉瘤。
关键数值与推荐
- 主动脉瘤定义：胸主动脉直径 ≥4 cm，腹主动脉直径 ≥3 cm。
- 主动脉病理分类包括：动脉瘤、扩张、夹层、狭窄和先天性解剖异常。
临床怎么用
- 对于多灶性 FMD 患者，应考虑进行从头至骨盆的完整主动脉影像学评估以筛查主动脉异常。
- 主动脉受累患者合并非主动脉动脉瘤比例更高，需对全身血管床进行全面评估。
局限性
- 单中心、回顾性病历审查设计存在选择偏倚，且仅纳入具备完整主动脉影像检查的患者。
- 转诊中心人群可能病情更重，结果外推至一般 FMD 人群需谨慎。
以上解读依据论文摘要（全文未开放获取或许可不允许翻译转载）。
原文
Background Fibromuscular dysplasia (FMD) is a non-atherosclerotic vascular disease that affects medium-sized arteries with multifocal (beaded) or focal stenotic lesions, aneurysms, dissections and tortuosity. The extent of aortic involvement in FMD is uncertain. This study evaluates the prevalence and characteristics of aortic findings in patients with multifocal FMD. Methods Single-centre, retrospective chart review of patients with multifocal FMD seen from January 2019 to July 2024. Patients ≥18 years with complete aortic cross-sectional imaging were included. Demographic, medical history, family history and vascular phenotype were collected. Aortic pathologies were characterised: aneurysms (thoracic diameter ≥4 cm, abdominal diameter ≥3 cm), ectasia, dissection, stenosis and anatomical anomalies. Results Of 360 patients (353 female, 98.1%), aortic involvement was identified in 36 patients (10.0%; 95% CI 7.3% to 13.5%): three acute aortic syndromes (<1%), eight aneurysms (2.2%), 17 ectasias (4.7%) and nine congenital anomalies (2.5%). Among those with aortic involvement (n=36), three (8.3%) were male, four (11.1%) had a family history of aneurysm, two (5.6%) had a family history of dissection and nine underwent clinical genetic testing for aortopathies, all of which were negative. All aortic aneurysms and ectasias were in the proximal thoracic aorta (eight aortic root, 17 ascending aorta). No aortic stenosis was found. Of the nine congenital anomalies, seven had an aberrant right subclavian artery, one had ductus diverticulum and one had coarctation. Compared with patients without aortic involvement, those with aortic involvement were more likely to be male and have non-aortic arterial aneurysms. Conclusion Aortic findings, predominantly presenting as thoracic ectasia or aneurysm, were identified in 10% of patients with multifocal FMD and complete aortic imaging seen at a single specialised referral centre. These findings support recommendations for head-to-pelvis imaging for patients with FMD and highlight the need for further research into the genetic and systemic aspects of this disease.
引用
- Open Heart：Prevalence of aortic findings among patients with multifocal fibromuscular dysplasia (FMD) seen at a specialised referral centre
供执业医师工作参考，不替代临床判断；数值与分级以指南原文为准。