Department of Pediatrics, Oregon Health and Science University, Portland, Oregon, USA.
School of Public Health, Oregon Health and Science University, Portland, Oregon, USA.
J Am Coll Cardiol. 2022 May 31;79(21):2069-2081. doi: 10.1016/j.jacc.2022.03.367.
The GenTAC (Genetically Triggered Thoracic Aortic Aneurysm and Cardiovascular Conditions) Registry enrolled patients with genetic aortopathies between 2007 and 2016.
The purpose of this study was to compare age distribution and probability of elective surgery for proximal aortic aneurysm, any dissection surgery, and cardiovascular mortality among aortopathy etiologies.
The GenTAC study had a retrospective/prospective design. Participants with bicuspid aortic valve (BAV) with aneurysm (n = 879), Marfan syndrome (MFS) (n = 861), nonsyndromic heritable thoracic aortic disease (nsHTAD) (n = 378), Turner syndrome (TS) (n = 298), vascular Ehlers-Danlos syndrome (vEDS) (n = 149), and Loeys-Dietz syndrome (LDS) (n = 121) were analyzed.
The 25% probability of elective proximal aortic aneurysm surgery was 30 years for LDS (95% CI: 18-37 years), followed by MFS (34 years; 95% CI: 32-36 years), nsHTAD (52 years; 95% CI: 48-56 years), and BAV (55 years; 95% CI: 53-58 years). Any dissection surgery 25% probability was highest in LDS (38 years; 95% CI: 33-53 years) followed by MFS (51 years; 95% CI: 46-57 years) and nsHTAD (54 years; 95% CI: 51-61 years). BAV experienced the largest relative frequency of elective surgery to any dissection surgery (254/33 = 7.7), compared with MFS (273/112 = 2.4), LDS (35/16 = 2.2), or nsHTAD (82/76 = 1.1). With MFS as the reference population, risk of any dissection surgery or cardiovascular mortality was lowest in BAV patients (HR: 0.13; 95% CI: 0.08-0.18; HR: 0.13; 95%: CI: 0.06-0.27, respectively). The greatest risk of mortality was seen in patients with vEDS.
Marfan and LDS cohorts demonstrate age and event profiles congruent with the current understanding of syndromic aortopathies. BAV events weigh toward elective replacement with relatively few dissection surgeries. Nonsyndromic HTAD patients experience near equal probability of dissection vs prophylactic surgery, possibly because of failure of early diagnosis.
GenTAC（遗传性胸主动脉瘤和心血管疾病）注册研究招募了 2007 年至 2016 年间患有遗传性主动脉疾病的患者。
本研究旨在比较不同病因的主动脉疾病患者的年龄分布和近端主动脉瘤择期手术、任何夹层手术以及心血管死亡率的概率。
GenTAC 研究采用回顾性/前瞻性设计。研究对象包括二叶式主动脉瓣（BAV）伴动脉瘤（n=879）、马凡综合征（MFS）（n=861）、非综合征遗传性胸主动脉疾病（nsHTAD）（n=378）、特纳综合征（TS）（n=298）、血管埃勒斯-当洛斯综合征（vEDS）（n=149）和 Loeys-Dietz 综合征（LDS）（n=121）。
LDS 患者行近端主动脉瘤择期手术的 25%概率为 30 岁（95%CI：18-37 岁），其次是 MFS（34 岁；95%CI：32-36 岁）、nsHTAD（52 岁；95%CI：48-56 岁）和 BAV（55 岁；95%CI：53-58 岁）。LDS 患者发生任何夹层手术的 25%概率最高（38 岁；95%CI：33-53 岁），其次是 MFS（51 岁；95%CI：46-57 岁）和 nsHTAD（54 岁；95%CI：51-61 岁）。BAV 行择期手术治疗任何夹层手术的相对频率最高（254/33=7.7），其次是 MFS（273/112=2.4）、LDS（35/16=2.2）或 nsHTAD（82/76=1.1）。以 MFS 为参考人群，BAV 患者发生任何夹层手术或心血管死亡率的风险最低（HR：0.13；95%CI：0.08-0.18；HR：0.13；95%CI：0.06-0.27）。vEDS 患者的死亡率最高。
马凡综合征和 LDS 队列表现出与当前对综合征性主动脉疾病的理解一致的年龄和事件特征。BAV 事件倾向于择期置换，夹层手术相对较少。非综合征性 HTAD 患者发生夹层与预防性手术的概率几乎相等，可能是由于早期诊断失败。
