Clinical course and outcomes of supravalvular aortic stenosis in adults.

IF 2.8 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS

Open Heart Pub Date : 2025-05-27 DOI:10.1136/openhrt-2025-003355

Adine R de Keijzer, Zoë A Keuning, Frederike Meccanici, Roland R L van Kimmenade, Joost P van Melle, Berto J Bouma, Jolanda Kluin, Monique R M Jongbloed, Michiel Voskuil, Jolien W Roos-Hesselink, Annemien E van den Bosch

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引用次数: 0

Abstract

Background: Supravalvular aortic stenosis (SVAS) is a rare condition with limited data on patients beyond childhood. This study aims to investigate the clinical course and outcomes of SVAS in adults.

Methods: All adult (≥18 years) patients with SVAS, prospectively registered in the Dutch Congenital Cor Vitia database between 2001 and 2019, were included. Survival and event-free survival were assessed. Evolution of peak velocity was analysed using linear mixed models. Differences in previous operated state, sex and Williams-Beuren syndrome were explored.

Results: 65 patients were included (age: 23 (IQR: 20, 31) years, 31% female, 46% previous SVAS correction, 47% Williams-Beuren syndrome). The peak velocity was 2.3±1.0 m/s at inclusion. Median follow-up time was 13 (IQR: 10, 17) years. Four patients died (one patient after cardiac surgery, two of non-cardiac causes and in one patient the cause of death was unknown) resulting in a 10-year survival of 95% (95% CI 90% to 100%) and event-free survival of 83% (95% CI 74% to 93%). There were no differences in event-free survival between previous operated state (p=0.2), sex (p=0.48) or Williams-Beuren syndrome (p=0.85). 31 cardiovascular events occurred in 15 patients, with the majority being arrhythmias. All SVAS-related interventions (three surgeries in two patients) occurred in unoperated patients (7 (95% CI 2 to 21)/1000 patient years). Although no patient showed fast progression (≥0.3 m/s/year), the peak velocity evolution over time increased faster in females compared with males (first time spline: 0.8 m/s, p=0.017).

Conclusion: In adulthood, SVAS patients showed a stable clinical course without rapid progression. While cardiovascular events occurred in this young cohort, they were mostly obsereved in those with additional congenital heart defects, suggesting a more optimistic view for SVAS itself. No significant differences in outcomes were observed in patients with/without Williams-Beuren syndrome. Overall, SVAS tends to follow a more benign course in adulthood compared with childhood, potentially allowing for less intensive follow-up- though follow-up should still be individualised based on associated congenital heart defects and cardiovascular risks.

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成人瓣上主动脉狭窄的临床过程和结局。

背景：瓣上主动脉狭窄（SVAS）是一种罕见的疾病，儿童以后的患者资料有限。本研究旨在探讨成人SVAS的临床过程和预后。方法：纳入2001年至2019年期间在荷兰先天性心脏病数据库中前瞻性登记的所有成年（≥18岁）SVAS患者。评估生存和无事件生存。用线性混合模型分析了峰值速度的演化。探讨术前手术状态、性别及Williams-Beuren综合征的差异。结果：纳入65例患者（年龄：23 （IQR: 20,31）岁，女性31%，既往SVAS矫正46%，Williams-Beuren综合征47%）。包合时的峰值速度为2.3±1.0 m/s。中位随访时间为13年（IQR: 10,17）年。4例患者死亡（1例心脏手术后死亡，2例非心脏原因死亡，1例死因不明），10年生存率为95% (95% CI为90%至100%)，无事件生存率为83% （95% CI为74%至93%）。无事件生存率在既往手术状态（p=0.2）、性别（p=0.48）和Williams-Beuren综合征（p=0.85）之间无差异。15例患者发生31例心血管事件，以心律失常为主。所有svas相关干预措施（2例患者进行3次手术）均发生在未手术患者中（7例(95% CI 2 ~ 21)/1000患者年）。虽然没有患者表现出快速进展（≥0.3 m/s/年），但随着时间的推移，女性的峰值速度演变比男性更快（首次样条：0.8 m/s, p=0.017）。结论：成年期SVAS患者临床病程稳定，无快速进展。虽然心血管事件发生在这个年轻的队列中，但它们大多发生在那些额外的先天性心脏缺陷的人群中，这表明SVAS本身的观点更为乐观。Williams-Beuren综合征患者与非Williams-Beuren综合征患者的预后无显著差异。总的来说，与儿童期相比，SVAS在成年期趋向于更良性的病程，可能允许较少的密集随访-尽管随访仍应根据相关的先天性心脏缺陷和心血管风险进行个体化。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Open Heart CARDIAC & CARDIOVASCULAR SYSTEMS-

CiteScore

4.60

自引率

3.70%

发文量

145

审稿时长

20 weeks

期刊介绍： Open Heart is an online-only, open access cardiology journal that aims to be “open” in many ways: open access (free access for all readers), open peer review (unblinded peer review) and open data (data sharing is encouraged). The goal is to ensure maximum transparency and maximum impact on research progress and patient care. The journal is dedicated to publishing high quality, peer reviewed medical research in all disciplines and therapeutic areas of cardiovascular medicine. Research is published across all study phases and designs, from study protocols to phase I trials to meta-analyses, including small or specialist studies. Opinionated discussions on controversial topics are welcomed. Open Heart aims to operate a fast submission and review process with continuous publication online, to ensure timely, up-to-date research is available worldwide. The journal adheres to a rigorous and transparent peer review process, and all articles go through a statistical assessment to ensure robustness of the analyses. Open Heart is an official journal of the British Cardiovascular Society.