Clinical course and outcomes of supravalvular aortic stenosis in adults
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...
Saved in:
| Main Authors: | , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMJ Publishing Group
2025-05-01
|
| Series: | Open Heart |
| Online Access: | https://openheart.bmj.com/content/12/1/e003355.full |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850225437477699584 |
|---|---|
| author | Jolien W Roos-Hesselink Roland R J van Kimmenade Annemien E van den Bosch Michiel Voskuil Berto J Bouma Monique R M Jongbloed Joost P van Melle Jolanda Kluin Frederike Meccanici Adine R de Keijzer Zoë A Keuning |
| author_facet | Jolien W Roos-Hesselink Roland R J van Kimmenade Annemien E van den Bosch Michiel Voskuil Berto J Bouma Monique R M Jongbloed Joost P van Melle Jolanda Kluin Frederike Meccanici Adine R de Keijzer Zoë A Keuning |
| author_sort | Jolien W Roos-Hesselink |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-64cca30d71b6450a8ee1e181bd62fe1c |
| institution | OA Journals |
| issn | 2053-3624 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | BMJ Publishing Group |
| record_format | Article |
| series | Open Heart |
| spelling | doaj-art-64cca30d71b6450a8ee1e181bd62fe1c2025-08-20T02:05:21ZengBMJ Publishing GroupOpen Heart2053-36242025-05-0112110.1136/openhrt-2025-003355Clinical course and outcomes of supravalvular aortic stenosis in adultsJolien W Roos-Hesselink0Roland R J van Kimmenade1Annemien E van den Bosch2Michiel Voskuil3Berto J Bouma4Monique R M Jongbloed5Joost P van Melle6Jolanda Kluin7Frederike Meccanici8Adine R de Keijzer9Zoë A Keuning10European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN-GUARD-HEART), Amsterdam, The NetherlandsDepartment of Cardiology, Radboud University Medical Center, Nijmegen, The NetherlandsDepartment of Cardiology, Erasmus University Medical Centre, Rotterdam, The NetherlandsDepartment of Cardiology, University Medical Centre Utrecht, Utrecht, The NetherlandsDepartment of Cardiology, Amsterdam University Medical Centre, Amsterdam, The NetherlandsDepartment of Cardiology, Leiden University Medical Centre, Leiden, The NetherlandsDepartment of Cardiology, University Medical Centre Groningen, Groningen, The NetherlandsDepartment of Cardiothoracic Surgery, Erasmus University Medical Centre, Rotterdam, The NetherlandsDepartment of Cardiology, Erasmus University Medical Centre, Rotterdam, The NetherlandsDepartment of Cardiology, Erasmus University Medical Centre, Rotterdam, The NetherlandsDepartment of Cardiology, Erasmus University Medical Centre, Rotterdam, The NetherlandsBackground 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.https://openheart.bmj.com/content/12/1/e003355.full |
| spellingShingle | Jolien W Roos-Hesselink Roland R J van Kimmenade Annemien E van den Bosch Michiel Voskuil Berto J Bouma Monique R M Jongbloed Joost P van Melle Jolanda Kluin Frederike Meccanici Adine R de Keijzer Zoë A Keuning Clinical course and outcomes of supravalvular aortic stenosis in adults Open Heart |
| title | Clinical course and outcomes of supravalvular aortic stenosis in adults |
| title_full | Clinical course and outcomes of supravalvular aortic stenosis in adults |
| title_fullStr | Clinical course and outcomes of supravalvular aortic stenosis in adults |
| title_full_unstemmed | Clinical course and outcomes of supravalvular aortic stenosis in adults |
| title_short | Clinical course and outcomes of supravalvular aortic stenosis in adults |
| title_sort | clinical course and outcomes of supravalvular aortic stenosis in adults |
| url | https://openheart.bmj.com/content/12/1/e003355.full |
| work_keys_str_mv | AT jolienwrooshesselink clinicalcourseandoutcomesofsupravalvularaorticstenosisinadults AT rolandrjvankimmenade clinicalcourseandoutcomesofsupravalvularaorticstenosisinadults AT annemienevandenbosch clinicalcourseandoutcomesofsupravalvularaorticstenosisinadults AT michielvoskuil clinicalcourseandoutcomesofsupravalvularaorticstenosisinadults AT bertojbouma clinicalcourseandoutcomesofsupravalvularaorticstenosisinadults AT moniquermjongbloed clinicalcourseandoutcomesofsupravalvularaorticstenosisinadults AT joostpvanmelle clinicalcourseandoutcomesofsupravalvularaorticstenosisinadults AT jolandakluin clinicalcourseandoutcomesofsupravalvularaorticstenosisinadults AT frederikemeccanici clinicalcourseandoutcomesofsupravalvularaorticstenosisinadults AT adinerdekeijzer clinicalcourseandoutcomesofsupravalvularaorticstenosisinadults AT zoeakeuning clinicalcourseandoutcomesofsupravalvularaorticstenosisinadults |