Congenital heart defects and postoperative follow-up of patients with Williams syndrome as a single center experience and review of the cases from Türkiye

Background. Cardiovascular system involvement is quite common and the leading cause of morbidity and mortality in patients with Williams syndrome (WS), most of whom need surgery. The present study aimed to provide a detailed evaluation of the features of surgical procedures and outcomes of patients...

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Main Authors: Ali Orgun, Kürşad N. Tokel, İlkay Erdoğan, Birgül Varan, Murat Özkan, Sait Aşlamacı
Format: Article
Language:English
Published: Hacettepe University Institute of Child Health 2024-05-01
Series:The Turkish Journal of Pediatrics
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Online Access:https://turkjpediatr.org/article/view/4591
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author Ali Orgun
Kürşad N. Tokel
İlkay Erdoğan
Birgül Varan
Murat Özkan
Sait Aşlamacı
author_facet Ali Orgun
Kürşad N. Tokel
İlkay Erdoğan
Birgül Varan
Murat Özkan
Sait Aşlamacı
author_sort Ali Orgun
collection DOAJ
description Background. Cardiovascular system involvement is quite common and the leading cause of morbidity and mortality in patients with Williams syndrome (WS), most of whom need surgery. The present study aimed to provide a detailed evaluation of the features of surgical procedures and outcomes of patients with WS given as single-center experience, and additionally to make a detailed review from Türkiye. Materials and Methods. Thirty-five children with WS diagnosed between the years 1992 and 2021 were evaluated retrospectively including cardiovascular data, surgical treatment features, and outcomes. A total of six articles from Türkiye were evaluated. Results. A total of 35 patients with Williams Syndrome (24 male) with a median age of cardiologic diagnosis of 6 months (range, 2 days-6 years) were evaluated. The cardiac defects of the patients with WS were found as supravalvular aortic stenosis (SVAS) (n=30, 85%) and peripheral pulmonary stenosis (PPS) (n=21, 65%). Additional cardiac anomalies were seen in 71% patients. The rate of SVAS and PPS surgery in all patients with WS was 77.1%. The median surgical age of the patients was 2.5 years (range, 7 months-15.5 years). No patients died due to surgery. But one patient died because of ventricular tachycardia due to anesthesia at the beginning of angiography. A total of 138 (63% male) patients with WS were evaluated from the articles published in Türkiye. Of 138 patients, 64.4% had SVAS, 52.1% had PPS, and 39.8% had additional cardiac anomaly. The median follow-up period ranged from 17 months to 18 years, and six (4.3%) patients died in the early postoperative period. Conclusion. Cardiovascular system involvement is extremely common and is the leading cause of morbidity and mortality in patients with WS, often requiring surgical intervention. As seen in our study including 35 patients with WS and in publications from Türkiye, SVAS in patients with WS generally requires surgery, especially in the first year of life. PPS, on the other hand, requires surgery less frequently than SVAS, and pulmonary stenosis appears to decrease over time.
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series The Turkish Journal of Pediatrics
spelling doaj-art-5cd19c8cc7c04a19b59585b05089def12025-08-20T02:17:57ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212024-05-0166210.24953/turkjpediatr.2024.4591Congenital heart defects and postoperative follow-up of patients with Williams syndrome as a single center experience and review of the cases from TürkiyeAli Orgun0https://orcid.org/0000-0003-1604-270XKürşad N. Tokel1https://orcid.org/0000-0002-6759-1795İlkay Erdoğan2Birgül Varan3https://orcid.org/0000-0002-6719-8563Murat Özkan4https://orcid.org/0000-0003-3991-8479Sait Aşlamacı5https://orcid.org/0000-0002-9372-2277Department of Pediatric Cardiology, Başkent University Faculty of Medicine, Ankara, TürkiyeDepartment of Pediatric Cardiology, Başkent University Faculty of Medicine, Ankara, TürkiyeDepartment of Pediatric Cardiology, Başkent University Faculty of Medicine, Ankara, TürkiyeDepartment of Pediatric Cardiology, Başkent University Faculty of Medicine, Ankara, TürkiyeDepartments of Cardiovascular Surgery, Başkent University Faculty of Medicine, Ankara, TürkiyeDepartments of Cardiovascular Surgery, Başkent University Faculty of Medicine, Ankara, Türkiye Background. Cardiovascular system involvement is quite common and the leading cause of morbidity and mortality in patients with Williams syndrome (WS), most of whom need surgery. The present study aimed to provide a detailed evaluation of the features of surgical procedures and outcomes of patients with WS given as single-center experience, and additionally to make a detailed review from Türkiye. Materials and Methods. Thirty-five children with WS diagnosed between the years 1992 and 2021 were evaluated retrospectively including cardiovascular data, surgical treatment features, and outcomes. A total of six articles from Türkiye were evaluated. Results. A total of 35 patients with Williams Syndrome (24 male) with a median age of cardiologic diagnosis of 6 months (range, 2 days-6 years) were evaluated. The cardiac defects of the patients with WS were found as supravalvular aortic stenosis (SVAS) (n=30, 85%) and peripheral pulmonary stenosis (PPS) (n=21, 65%). Additional cardiac anomalies were seen in 71% patients. The rate of SVAS and PPS surgery in all patients with WS was 77.1%. The median surgical age of the patients was 2.5 years (range, 7 months-15.5 years). No patients died due to surgery. But one patient died because of ventricular tachycardia due to anesthesia at the beginning of angiography. A total of 138 (63% male) patients with WS were evaluated from the articles published in Türkiye. Of 138 patients, 64.4% had SVAS, 52.1% had PPS, and 39.8% had additional cardiac anomaly. The median follow-up period ranged from 17 months to 18 years, and six (4.3%) patients died in the early postoperative period. Conclusion. Cardiovascular system involvement is extremely common and is the leading cause of morbidity and mortality in patients with WS, often requiring surgical intervention. As seen in our study including 35 patients with WS and in publications from Türkiye, SVAS in patients with WS generally requires surgery, especially in the first year of life. PPS, on the other hand, requires surgery less frequently than SVAS, and pulmonary stenosis appears to decrease over time. https://turkjpediatr.org/article/view/4591Williams syndromesupravalvular aortic stenosisperipheral pulmonary stenosiscongenital heart defects
spellingShingle Ali Orgun
Kürşad N. Tokel
İlkay Erdoğan
Birgül Varan
Murat Özkan
Sait Aşlamacı
Congenital heart defects and postoperative follow-up of patients with Williams syndrome as a single center experience and review of the cases from Türkiye
The Turkish Journal of Pediatrics
Williams syndrome
supravalvular aortic stenosis
peripheral pulmonary stenosis
congenital heart defects
title Congenital heart defects and postoperative follow-up of patients with Williams syndrome as a single center experience and review of the cases from Türkiye
title_full Congenital heart defects and postoperative follow-up of patients with Williams syndrome as a single center experience and review of the cases from Türkiye
title_fullStr Congenital heart defects and postoperative follow-up of patients with Williams syndrome as a single center experience and review of the cases from Türkiye
title_full_unstemmed Congenital heart defects and postoperative follow-up of patients with Williams syndrome as a single center experience and review of the cases from Türkiye
title_short Congenital heart defects and postoperative follow-up of patients with Williams syndrome as a single center experience and review of the cases from Türkiye
title_sort congenital heart defects and postoperative follow up of patients with williams syndrome as a single center experience and review of the cases from turkiye
topic Williams syndrome
supravalvular aortic stenosis
peripheral pulmonary stenosis
congenital heart defects
url https://turkjpediatr.org/article/view/4591
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