Treatment and effect of cardiovascular surgery in patients with Williams syndrome_Chinese Journal of Clinical Thoracic and Cardiovascular Surgery

Authors：

 CUI Hujun ¹ , CHEN Jimei ¹ , WU Yueheng ² , LI Yifan ³ , ZHOU Kan ¹ , CEN Jianzheng ¹ , XU Gang ¹ , WEN Shusheng ¹ , ZHUANG Jian ¹

1. Department of Cardiac Surgery, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical Sciences, Guangdong Cardiovascular Disease Institute, Guangzhou, 510000, P.R.China;
2. Prenatal Diagnosis Center, Guangdong Provincial Key Laboratory of South China Structural Heart Disease, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical Sciences, Guangdong Cardiovascular Disease Institute, Guangzhou, 510000, P.R.China;
3. Department of Pediatric Cardiology, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical Sciences, Guangdong Cardiovascular Disease Institute, Guangzhou, 510000, P.R.China;

Corresponding author：

CUI Hujun, Email: drcuihj@163.com

Keywords：

Williams syndrome; supravalvular aortic stenosis; cardiac surgical procedure

DOI：

10.7507/1007-4848.202007049

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Objective To analyze the effects of cardiovascular surgery on Williams syndrome (WS).Methods The clinical data of 68 WS patients undergoing cardiovascular surgery in the Department of Cardiac Surgery, Guangdong Provincial People's Hospital from January 2010 to January 2020 were retrospectively analyzed. There were 48 males and 20 females with a median age of 2.8 years ranging from 3 months to 33 years. Except one patient undergoing the coarctation repair, the rest 67 patients underwent surgical interventions to correct supravalvular aortic stenosis (SAVS) and pulmonary artery stenosis with hypothermic cardiopulmonary bypass, concommitant with 3 patients of relief of left ventricular outflow tract obstruction, 2 patients of relief of right ventricular outflow tract obstruction, 2 patients of mitral valvuloplasty, 3 patients of ventricular septal defect repair and 1 patient of arterial catheter ligation.Results Two (2.9%) patients died of sudden cardiac arrest on the next day after surgery. One (1.5%) patient died of cardiac insufficiency due to severe aortic arch stenosis 3 years after surgery. The effect of SAVS was satisfactory. Two (2.9%) patients progressed to moderate aortic valvular regurgitation during postoperative follow-up. A total of 5 (7.4%) patients were re-intervened after operation for arch stenosis or pulmonary stenosis.Conclusion WS patients should be diagnosed early, followed up and assessed for cardiovascular system diseases, and timely surgical treatment has a good clinical effect.

Citation： CUI Hujun, CHEN Jimei, WU Yueheng, LI Yifan, ZHOU Kan, CEN Jianzheng, XU Gang, WEN Shusheng, ZHUANG Jian. Treatment and effect of cardiovascular surgery in patients with Williams syndrome. Chinese Journal of Clinical Thoracic and Cardiovascular Surgery, 2021, 28(7): 811-814. doi: 10.7507/1007-4848.202007049 Copy

1.	Committee on Genetics. American Academy of Pediatrics: Health care supervision for children with Williams syndrome. Pediatrics, 2001, 107(5): 1192-1204.
2.	Pober BR. Williams-Beuren syndrome. N Engl J Med, 2010, 362(3): 239-252.
3.	Nicita F, Garone G, Spalice A, et al. Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11. 23 critical region. Am J Med Genet A, 2016, 170A(1): 148-155.
4.	Kaplan P. Williams syndrome--does early diagnosis matter? Clin Pediatr (Phila), 2002, 41(4): 277-280.
5.	Xia Y, Huang SF, Wu YH, et al. Clinical application of chromosomal microarray analysis for the diagnosis of Williams-Beuren syndrome in Chinese Han patients. Mol Genet Genomic Med, 2019, 7(2): e517.
6.	Wessel A, Gravenhorst V, Buchhorn R, et al. Risk of sudden death in the Williams-Beuren syndrome. Am J Med Genet A, 2004, 127A(3): 234-237.
7.	Stamm C, Li J, Ho SY, et al. The aortic root in supravalvular aortic stenosis: The potential surgical relevance of morphologic findings. J Thorac Cardiovasc Surg, 1997, 114(1): 16-24.
8.	Roemers R, Kluin J, de Heer F, et al. Surgical correction of supravalvar aortic stenosis: 52 years' experience. World J Pediatr Congenit Heart Surg, 2018, 9(2): 131-138.
9.	Deo SV, Burkhart HM, Dearani JA, et al. Supravalvar aortic stenosis: Current surgical approaches and outcomes. Expert Rev Cardiovasc Ther, 2013, 11(7): 879-890.
10.	Hornik CP, Collins RT, Jaquiss RD, et al. Adverse cardiac events in children with Williams syndrome undergoing cardiovascular surgery: An analysis of the Society of Thoracic Surgeons Congenital Heart Surgery Database. J Thorac Cardiovasc Surg, 2015, 149(6): 1516-1522.
11.	Deo SV, Burkhart HM, Schaff HV, et al. Late outcomes for surgical repair of supravalvar aortic stenosis. Ann Thorac Surg, 2012, 94(3): 854-859.
12.	Mainwaring RD, Hanley FL. Surgical techniques for repair of peripheral pulmonary artery stenosis. Semin Thorac Cardiovasc Surg, 2017, 29(2): 198-205.
13.	白洁, 张剑蔚, 张瑞冬, 等. Williams-Beuren综合征合并先天性心血管疾病手术纠治的麻醉管理. 上海医学, 2013, 36(7): 637-639.
14.	禹纪红, 金敬琳, 李世国, 等. 先天性心脏病心导管及心血管造影检查死亡病例分析. 心肺血管病杂志, 2015, 34(3): 188-192.
15.	Andersen ND, Borisuk MJ, Hoganson DM, et al. Three-patch aortic root reconstruction with extended left main coronary artery patch augmentation in neonates and infants. Semin Thorac Cardiovasc Surg, 2019, 31(1): 99-101.
16.	Thistlethwaite PA, Madani MM, Kriett JM, et al. Surgical management of congenital obstruction of the left main coronary artery with supravalvular aortic stenosis. J Thorac Cardiovasc Surg, 2000, 120(6): 1040-1046.

1. Committee on Genetics. American Academy of Pediatrics: Health care supervision for children with Williams syndrome. Pediatrics, 2001, 107(5): 1192-1204.
2. Pober BR. Williams-Beuren syndrome. N Engl J Med, 2010, 362(3): 239-252.
3. Nicita F, Garone G, Spalice A, et al. Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11. 23 critical region. Am J Med Genet A, 2016, 170A(1): 148-155.
4. Kaplan P. Williams syndrome--does early diagnosis matter? Clin Pediatr (Phila), 2002, 41(4): 277-280.
5. Xia Y, Huang SF, Wu YH, et al. Clinical application of chromosomal microarray analysis for the diagnosis of Williams-Beuren syndrome in Chinese Han patients. Mol Genet Genomic Med, 2019, 7(2): e517.
6. Wessel A, Gravenhorst V, Buchhorn R, et al. Risk of sudden death in the Williams-Beuren syndrome. Am J Med Genet A, 2004, 127A(3): 234-237.
7. Stamm C, Li J, Ho SY, et al. The aortic root in supravalvular aortic stenosis: The potential surgical relevance of morphologic findings. J Thorac Cardiovasc Surg, 1997, 114(1): 16-24.
8. Roemers R, Kluin J, de Heer F, et al. Surgical correction of supravalvar aortic stenosis: 52 years' experience. World J Pediatr Congenit Heart Surg, 2018, 9(2): 131-138.
9. Deo SV, Burkhart HM, Dearani JA, et al. Supravalvar aortic stenosis: Current surgical approaches and outcomes. Expert Rev Cardiovasc Ther, 2013, 11(7): 879-890.
10. Hornik CP, Collins RT, Jaquiss RD, et al. Adverse cardiac events in children with Williams syndrome undergoing cardiovascular surgery: An analysis of the Society of Thoracic Surgeons Congenital Heart Surgery Database. J Thorac Cardiovasc Surg, 2015, 149(6): 1516-1522.
11. Deo SV, Burkhart HM, Schaff HV, et al. Late outcomes for surgical repair of supravalvar aortic stenosis. Ann Thorac Surg, 2012, 94(3): 854-859.
12. Mainwaring RD, Hanley FL. Surgical techniques for repair of peripheral pulmonary artery stenosis. Semin Thorac Cardiovasc Surg, 2017, 29(2): 198-205.
13. 白洁, 张剑蔚, 张瑞冬, 等. Williams-Beuren综合征合并先天性心血管疾病手术纠治的麻醉管理. 上海医学, 2013, 36(7): 637-639.
14. 禹纪红, 金敬琳, 李世国, 等. 先天性心脏病心导管及心血管造影检查死亡病例分析. 心肺血管病杂志, 2015, 34(3): 188-192.
15. Andersen ND, Borisuk MJ, Hoganson DM, et al. Three-patch aortic root reconstruction with extended left main coronary artery patch augmentation in neonates and infants. Semin Thorac Cardiovasc Surg, 2019, 31(1): 99-101.
16. Thistlethwaite PA, Madani MM, Kriett JM, et al. Surgical management of congenital obstruction of the left main coronary artery with supravalvular aortic stenosis. J Thorac Cardiovasc Surg, 2000, 120(6): 1040-1046.

Chinese Journal of Clinical Thoracic and Cardiovascular Surgery

Treatment and effect of cardiovascular surgery in patients with Williams syndrome

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