Zhang Jingnan, Fang Fang, Xia Zhiyuan, Zhu Wenhao, Tsang Christopher Tze-Wei, Ren Qingwen, Huang Jiayi, Guo Ran, Gu Wenli, Xuan Haochen, Chan Yap-Hang, Chan Tai-Leung, Yeung Alan C, Delgado Victoria, Pan Xiangbin, Zhang Gejun, Yiu Kai-Hang
Division of Cardiology, Department of Medicine, The University of Hong Kong-Shenzhen Hospital, Shenzhen, China.
Division of Cardiology, Department of Medicine, The University of Hong Kong, Queen Mary Hospital, Hong Kong SAR, China.
JAMA Netw Open. 2025 Aug 1;8(8):e2524915. doi: 10.1001/jamanetworkopen.2025.24915.
Congenital aortic valve disease predominantly manifests as bicuspid aortic valve (BAV), while quadricuspid aortic valve (QAV) is considerably rarer. Whether outcomes vary between these 2 types of congenital aortic valve disease remains unknown.
To compare outcomes between patients with QAV and patients with BAV.
DESIGN, SETTING, AND PARTICIPANTS: In this cohort study, patients diagnosed with QAV or BAV were retrospectively identified from echocardiographic examinations performed from January 1, 2011, to December 31, 2023, at 2 tertiary hospitals in China. Patients with QAV were propensity score matched 1:5 by age and sex with patients with BAV.
Presence of QAV or BAV.
Outcomes of interest included aortic valve intervention (surgical or transcatheter), aortic surgery, aortic dissection, infective endocarditis (IE), heart failure hospitalization (HFH), and all-cause death. Morbidity rates were estimated using the cumulative incidence function to account for competing risk of death. Relative survival was calculated as the ratio of observed survival to the expected survival in the general population.
From 2 945 132 echocardiographic examinations, 139 patients with QAV (median age, 54.8 [IQR, 46.2-63.9] years; 85 [61.2%] male) and 695 with BAV (median age, 55.4 [IQR, 45.5-64.2] years; 425 [61.2%] male) were included. Over a median follow-up of 4.8 years (IQR, 2.4-8.0 years), patients with QAV had a similar incidence of aortic valve intervention (77.4% [95% CI, 64.5%-86.1%] vs 75.7% [95% CI, 71.1%-79.8%]; P = .26) but lower incidence of aortic surgery (5.1% [95% CI, 0.9%-15.0%] vs 33.8% [95% CI, 28.4%-39.2%]; P < .001) and IE (not observed vs 9.6% [95% CI, 6.4%-13.5%]; P = .01) compared with patients with BAV. Aortic dissection was rare in both groups (QAV, 0.9% [95% CI, 0.1%-4.1%]; BAV, 3.6% [95% CI, 1.8%-6.4%]; P = .57). Compared with BAV, QAV morphology was associated with an increased risk of HFH after multivariable adjustments (adjusted hazard ratio [AHR], 2.52; 95% CI, 1.51-4.20; P < .001). Presence of cardiomyopathies was an independent factor associated with HFH in patients with QAV (AHR, 4.27; 95% CI, 2.26-8.07; P < .001). The 5-year relative survival rate compared with the age- and sex-matched general population was 102.9% (95% CI, 97.9%-107.2%) for patients with QAV and 102.4% (95% CI, 99.3%-104.8%) for those with BAV.
In this large, retrospective cohort study, both QAV and BAV were associated with a high risk of aortic valve intervention. Individuals with QAV had a greater risk of HFH, while those with BAV had higher incidence of IE and aortic surgery. Despite the substantial morbidity burden, survival in both groups was similar to that in the general population.
先天性主动脉瓣疾病主要表现为二叶式主动脉瓣（BAV），而四叶式主动脉瓣（QAV）则极为罕见。这两种类型的先天性主动脉瓣疾病的预后是否存在差异仍不明确。
比较QAV患者和BAV患者的预后。
设计、背景和参与者：在这项队列研究中，从2011年1月1日至2023年12月31日在中国两家三级医院进行的超声心动图检查中，回顾性识别出诊断为QAV或BAV的患者。QAV患者按年龄和性别与BAV患者进行1:5倾向评分匹配。
存在QAV或BAV。
感兴趣的结局包括主动脉瓣干预（手术或经导管）、主动脉手术、主动脉夹层、感染性心内膜炎（IE）、心力衰竭住院（HFH）和全因死亡。发病率采用累积发病率函数进行估计，以考虑死亡的竞争风险。相对生存率计算为观察到的生存率与一般人群预期生存率的比值。
在2945132次超声心动图检查中，纳入了139例QAV患者（中位年龄54.8岁[四分位间距，46.2 - 63.9岁]；85例[61.2%]为男性）和695例BAV患者（中位年龄55.4岁[四分位间距，45.5 - 64.2岁]；425例[61.2%]为男性）。在中位随访4.8年（四分位间距，2.4 - 8.0年）期间，QAV患者的主动脉瓣干预发生率相似（77.4%[95%置信区间，64.5% - 86.1%]对75.7%[95%置信区间，71.1% - 79.8%]；P = 0.26），但主动脉手术（5.1%[95%置信区间，0.9% - 15.0%]对33.8%[95%置信区间，28.4% - 39.2%]；P < 0.001）和IE（未观察到对9.6%[95%置信区间，6.4% - 13.5%]；P = 0.01）的发生率低于BAV患者。两组主动脉夹层均罕见（QAV，0.9%[95%置信区间，0.1% - 4.1%]；BAV，3.6%[95%置信区间，1.8% - 6.4%]；P = 0.57）。多变量调整后，与BAV相比，QAV形态与HFH风险增加相关（调整后风险比[AHR]，2.52；95%置信区间，1.51 - 4.20；P < 0.001）。心肌病的存在是QAV患者HFH的独立相关因素（AHR，4.27；95%置信区间，2.26 - 8.07；P < 0.001）。与年龄和性别匹配的一般人群相比，QAV患者的5年相对生存率为102.9%（95%置信区间，97.9% - 107.2%），BAV患者为102.4%（95%置信区间，99.3% - 104.8%）。
在这项大型回顾性队列研究中，QAV和BAV均与主动脉瓣干预的高风险相关。QAV个体发生HFH的风险更高，而BAV个体发生IE和主动脉手术的发生率更高。尽管存在严重的发病负担，但两组的生存率与一般人群相似。
