Research progress on Williams syndrome complicated with cardiovascular disease_Chinese Journal of Clinical Thoracic and Cardiovascular Surgery

Authors：

ZHOU Jianrong ,  CHEN Jimei

Department of Cardiac Surgery, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangdong Institute of Cardiovascular Diseases, Key Laboratory of South China Structural Heart Disease, Guangzhou, 510080, P.R.China;

Corresponding author：

CHEN Jimei, Email: jimei@hotmail.com

Keywords：

Williams syndrome; genetic; cardiovascular disease; surgical treatment; review

DOI：

10.7507/1007-4848.201908013

Video：

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Williams syndrome is a congenital multisystem disease. Cardiovascular abnormality caused by elastin deficiency is the main cause of morbidity and mortality in Williams syndrome patients. Recent studies have found that 80% of Williams syndrome patients have cardiovascular abnormalities, most of which are arterial stenosis, especially the aortic valve stenosis and pulmonary artery stenosis. Operation is the main method to treat the stenosis of the artery, and the results of the operation on the aortic valve stenosis in most centers are good, but the effect of transcatheter intervention is still not obvious, pulmonary artery reconstruction has a good effect on the treatment of peripheral pulmonary artery stenosis. Advances in genetic diagnosis, surgical techniques and treatment regimens are expected to significantly improve cardiovascular outcomes in these patients. This article reviews the latest research progress of Williams syndrome combined with cardiovascular disease.

Citation： ZHOU Jianrong, CHEN Jimei. Research progress on Williams syndrome complicated with cardiovascular disease. Chinese Journal of Clinical Thoracic and Cardiovascular Surgery, 2020, 27(8): 972-976. doi: 10.7507/1007-4848.201908013 Copy

1.	Strømme P, Bjørnstad PG, Ramstad K. Prevalence estimation of Williams syndrome. J Child Neurol, 2002, 17: 269-271.
2.	Adams GN, Schmaier AH. The Williams-Beuren syndrome-a window intogenetic variants leading to the development of cardiovascular disease. PLoS Genet, 2012, 8(2): e1002479.
3.	Pober BR. Williams-Beuren syndrome. N Engl J Med, 2010, 362: 239-252.
4.	Twite MD, Stenquist S, Ing RJ. Williams syndrome. Paediatr Anaesth, 2019, 29(5): 483-490.
5.	Hidalgo I, Gómez Vilda P, Garayzábal E. Biomechanical description of phonation in children affected by Williams syndrome. J Voice, 2018, 32(4): 515.
6.	Metafratzi ZM, Efremidis SC, Skopelitou AS, et al. The clinical significance of aortic compliance and its assessment with magnetic resonance imaging. J Cardiovasc Magn Reson, 2002, 4(4): 481-491.
7.	Karnik SK, Brooke BS, Bayes-Genis A, et al. A critical role for elastin signaling in vascular morphogenesis anddisease. Development, 2003, 130(2): 411-423.
8.	Onan IS, Öztürk E, Demirel Başgöze A, et al. Diffuse hypoplasia of the aortic arch and isthmus in a patient with Williams syndrome. Turk Kardiyol Dern Ars, 2017, 45(8): 758-762.
9.	Jiao Y, Li G, Korneva A, et al. Deficient circumferential growth is the primarydeterminant of aortic obstruction attributable to partial elastin deficiency. Arterioscler Thromb Vasc Biol, 2017, 37(5): 930-941.
10.	Cohen JL, Glickstein JS, Crystal MA. Drug-coated balloon angioplasty: A novel treatment for pulmonary artery in-stent stenosis in a patient with Williams syndrome. Pediatr Cardiol, 2017, 38(8): 1716-1721.
11.	Collins RT, Kaplan P, Somes GW, et al. Cardiovascular abnormalities, interventions, and long-term outcomes in infantile Williams syndrome. J Pediatr, 2010, 156(2): 253-258.
12.	Brown ML, Nasr VG, Toohey R, et al. Williams syndrome and anesthesia for non-cardiac surgery: high risk can be mitigated with appropriate planning. Pediatr Cardiol, 2018, 39(6): 1123-1128.
13.	Yau EK, Lo IF, Lam ST. Williams-Beuren syndrome in the Hong Kong Chinese population: retrospective study. Hong Kong Med J, 2004, 10(1): 22-27.
14.	Fricke TA, d'Udekem Y, Brizard CP, et al. Surgical repair of supravalvular aortic stenosis in children with Williams syndrome: a 30-year experience. Ann Thorac Surg, 2015, 99(4): 1335-1341.
15.	Kececioglu D, Kotthoff S, Vogt J. Williams-Beuren syndrome: a 30-year follow-up of natural and postoperative course. Eur Heart J, 1993, 14(11): 1458-1464.
16.	Hickey EJ, Jung G, Williams WG, et al. Congenital supravalvular aortic stenosis: defining surgical and nonsurgical outcomes. Ann Thorac Surg, 2008, 86(6): 1919-1927.
17.	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.
18.	Pham PP, Moller JH, Hills C, et al. Cardiac catheterization and operative outcomes from a multicenter consortium for children with Williams syndrome. Pediatr Cardiol, 2009, 30(1): 9-14.
19.	Bird LM, Billman GF, Lacro RV, et al. Sudden death in Williams syndrome: report of ten cases. J Pediatr, 1996, 129(6): 926-931.
20.	Eronen M, Peippo M, Hiippala A, et al. Cardiovascular manifestations in 75 patients with Williams syndrome. J Med Genet, 2002, 39(8): 554-558.
21.	Cha SG, Song MK, Lee SY, et al. Long-term cardiovascular outcome of Williams syndrome. Congenit Heart Dis, 2019, 14(5): 684-690.
22.	Wang CC, Hwu WL, Wu ET, et al. Outcome of pulmonary and aortic stenosis in Williams-Beuren syndrome in an Asian cohort. Acta Paediatr, 2007, 96(6): 906-909.
23.	Broder K, Reinhardt E, Ahern J, et al. Elevated ambulatory blood pressure in 20 subjects with Williams syndrome. Am J Med Genet, 1999, 83(5): 356-360.
24.	Bouchireb K, Boyer O, Bonnet D, et al. Clinical features and management of arterial hypertension in children with Williams-Beuren syndrome. Nephrol Dial Transplant, 2010, 25(2): 434-438.
25.	Hills JA, Zarate YA, Danylchuk NR, et al. Advanced cardiovascular imaging in Williams syndrome: abnormalities, usefulness, and strategy for use. Am J Med Genet A, 2017, 173(5): 1194-1199.
26.	Yuan SM. Congenital heart defects in Williams syndrome. Turk J Pediatr, 2017, 59(3): 225-232.
27.	Del Campo M, Antonell A, Magano LF, et al. Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension. Am J Hum Genet, 2006, 78(4): 533-542.
28.	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.
29.	Collins RT, Aziz PF, Gleason MM, et al. Abnormalities of cardiac repolarizationin Williams syndrome. Am J Cardiol, 2010, 106(7): 1029-1033.
30.	Collins RT. Clinical significance of prolonged QTc interval in Williams syndrome. Am J Cardiol, 2011, 108(3): 471-473.
31.	阮琰, 许晓光, 徐丹萍, 等. 羊水细胞高通量测序产前诊断 Williams 综合征. 中国优生与遗传杂志, 2018, 26(12): 53-54.
32.	Beldhuis IE, Streng KW, Ter Maaten JM, et al. Renin-angiotensin system inhibition, worsening renal function, and outcome in heart failure patients with reduced and preserved ejection fraction: a meta-analysis of published study data. Circ Heart Fail, 2017, 10(2): e003588.
33.	Collins RT. Cardiovascular disease in Williams syndrome. Curr Opin Pediatr, 2018, 30(5): 609-615.
34.	Owens EA, Jie L, Reyes BAS, et al. Elastin insufficiency causes hypertension, structural defects and abnormal remodelling of renal vascular signaling. Kidney Int, 2017, 92(5): 1100-1118.
35.	Slove S, Lannoy M, Behmoaras J, et al. Potassium channel openersincrease aortic elastic fiber formation and reverse the genetically determined elastin deficit in the BN rat. Hypertension, 2013, 62(4): 794-801.
36.	Coquand-Gandit M, Jacob MP, Fhayli W, et al. Chronic treatment with minoxidil induces elastic fiber neosynthesis and functional improvement in the aorta of aged mice. Rejuvenation Res, 2017, 20(3): 218-230.
37.	Knutsen RH, Beeman SC, Broekelmann TJ, et al. Minoxidil improves vascularcompliance, restores cerebral blood flow and alters extracellular matrix geneexpression in a model of chronic vascular stiffness. Am J Physiol Heart Circ Physiol, 2018, 315(1): 18-32.
38.	王国华, 周诚, 苏伟, 等. Williams 综合征合并主动脉瓣上或(和)肺动脉狭窄的外科治疗. 中国循环杂志, 2017, 32(z1): 141.
39.	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.
40.	Roemers R, Kluin J, de Heer F, et al. Surgical correction of supravalvar aorticstenosis: 52 years’ experience. World J Pediatr Congenit Heart Surg, 2018, 9(2): 131-138.
41.	解衍博, 吴信. 先天性主动脉瓣上狭窄的外科治疗. 中国循环杂志, 2015, 7: 710-713.
42.	孟强, 孙立忠, 常谦, 等. Williams 综合征合并先天性心血管病的外科治疗. 中华外科杂志, 2005, 43(10): 644-646.
43.	Geggel RL, Gauvreau K, Lock JE. Balloon dilation angioplasty of peripheral pulmonary stenosis associated with Williams syndrome. Circulation, 2001, 103(17): 2165-2170.
44.	Cunningham JW, McElhinney DB, Gauvreau K, et al. Outcomes after primary transcatheter therapy in infants and young children with severe bilateral peripheral pulmonary artery stenosis. Circ Cardiovasc Interv, 2013, 6(4): 460-467.
45.	Mookerjee J, Roebuck D, Derrick G. Restenosis after aortic stenting. Cardiol Young, 2004, 14(2): 210-211.
46.	Collins RT 2nd, Mainwaring RD, MacMillen KL, et al. Outcomes of pulmonary artery reconstruction in Williams syndrome. Ann Thorac Surg, 2019, 108(1): 146-153.
47.	González-López MT, Pérez-Caballero-Martínez R, Granados-Ruiz MÁ, et al. End-stage ischemic heart failure and Williams-Beuren syndrome: A unique scenario for pediatric heart transplantation. Pediatr Transplant, 2016, 20(3): 472-476.

1. Strømme P, Bjørnstad PG, Ramstad K. Prevalence estimation of Williams syndrome. J Child Neurol, 2002, 17: 269-271.
2. Adams GN, Schmaier AH. The Williams-Beuren syndrome-a window intogenetic variants leading to the development of cardiovascular disease. PLoS Genet, 2012, 8(2): e1002479.
3. Pober BR. Williams-Beuren syndrome. N Engl J Med, 2010, 362: 239-252.
4. Twite MD, Stenquist S, Ing RJ. Williams syndrome. Paediatr Anaesth, 2019, 29(5): 483-490.
5. Hidalgo I, Gómez Vilda P, Garayzábal E. Biomechanical description of phonation in children affected by Williams syndrome. J Voice, 2018, 32(4): 515.
6. Metafratzi ZM, Efremidis SC, Skopelitou AS, et al. The clinical significance of aortic compliance and its assessment with magnetic resonance imaging. J Cardiovasc Magn Reson, 2002, 4(4): 481-491.
7. Karnik SK, Brooke BS, Bayes-Genis A, et al. A critical role for elastin signaling in vascular morphogenesis anddisease. Development, 2003, 130(2): 411-423.
8. Onan IS, Öztürk E, Demirel Başgöze A, et al. Diffuse hypoplasia of the aortic arch and isthmus in a patient with Williams syndrome. Turk Kardiyol Dern Ars, 2017, 45(8): 758-762.
9. Jiao Y, Li G, Korneva A, et al. Deficient circumferential growth is the primarydeterminant of aortic obstruction attributable to partial elastin deficiency. Arterioscler Thromb Vasc Biol, 2017, 37(5): 930-941.
10. Cohen JL, Glickstein JS, Crystal MA. Drug-coated balloon angioplasty: A novel treatment for pulmonary artery in-stent stenosis in a patient with Williams syndrome. Pediatr Cardiol, 2017, 38(8): 1716-1721.
11. Collins RT, Kaplan P, Somes GW, et al. Cardiovascular abnormalities, interventions, and long-term outcomes in infantile Williams syndrome. J Pediatr, 2010, 156(2): 253-258.
12. Brown ML, Nasr VG, Toohey R, et al. Williams syndrome and anesthesia for non-cardiac surgery: high risk can be mitigated with appropriate planning. Pediatr Cardiol, 2018, 39(6): 1123-1128.
13. Yau EK, Lo IF, Lam ST. Williams-Beuren syndrome in the Hong Kong Chinese population: retrospective study. Hong Kong Med J, 2004, 10(1): 22-27.
14. Fricke TA, d'Udekem Y, Brizard CP, et al. Surgical repair of supravalvular aortic stenosis in children with Williams syndrome: a 30-year experience. Ann Thorac Surg, 2015, 99(4): 1335-1341.
15. Kececioglu D, Kotthoff S, Vogt J. Williams-Beuren syndrome: a 30-year follow-up of natural and postoperative course. Eur Heart J, 1993, 14(11): 1458-1464.
16. Hickey EJ, Jung G, Williams WG, et al. Congenital supravalvular aortic stenosis: defining surgical and nonsurgical outcomes. Ann Thorac Surg, 2008, 86(6): 1919-1927.
17. 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.
18. Pham PP, Moller JH, Hills C, et al. Cardiac catheterization and operative outcomes from a multicenter consortium for children with Williams syndrome. Pediatr Cardiol, 2009, 30(1): 9-14.
19. Bird LM, Billman GF, Lacro RV, et al. Sudden death in Williams syndrome: report of ten cases. J Pediatr, 1996, 129(6): 926-931.
20. Eronen M, Peippo M, Hiippala A, et al. Cardiovascular manifestations in 75 patients with Williams syndrome. J Med Genet, 2002, 39(8): 554-558.
21. Cha SG, Song MK, Lee SY, et al. Long-term cardiovascular outcome of Williams syndrome. Congenit Heart Dis, 2019, 14(5): 684-690.
22. Wang CC, Hwu WL, Wu ET, et al. Outcome of pulmonary and aortic stenosis in Williams-Beuren syndrome in an Asian cohort. Acta Paediatr, 2007, 96(6): 906-909.
23. Broder K, Reinhardt E, Ahern J, et al. Elevated ambulatory blood pressure in 20 subjects with Williams syndrome. Am J Med Genet, 1999, 83(5): 356-360.
24. Bouchireb K, Boyer O, Bonnet D, et al. Clinical features and management of arterial hypertension in children with Williams-Beuren syndrome. Nephrol Dial Transplant, 2010, 25(2): 434-438.
25. Hills JA, Zarate YA, Danylchuk NR, et al. Advanced cardiovascular imaging in Williams syndrome: abnormalities, usefulness, and strategy for use. Am J Med Genet A, 2017, 173(5): 1194-1199.
26. Yuan SM. Congenital heart defects in Williams syndrome. Turk J Pediatr, 2017, 59(3): 225-232.
27. Del Campo M, Antonell A, Magano LF, et al. Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension. Am J Hum Genet, 2006, 78(4): 533-542.
28. 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.
29. Collins RT, Aziz PF, Gleason MM, et al. Abnormalities of cardiac repolarizationin Williams syndrome. Am J Cardiol, 2010, 106(7): 1029-1033.
30. Collins RT. Clinical significance of prolonged QTc interval in Williams syndrome. Am J Cardiol, 2011, 108(3): 471-473.
31. 阮琰, 许晓光, 徐丹萍, 等. 羊水细胞高通量测序产前诊断 Williams 综合征. 中国优生与遗传杂志, 2018, 26(12): 53-54.
32. Beldhuis IE, Streng KW, Ter Maaten JM, et al. Renin-angiotensin system inhibition, worsening renal function, and outcome in heart failure patients with reduced and preserved ejection fraction: a meta-analysis of published study data. Circ Heart Fail, 2017, 10(2): e003588.
33. Collins RT. Cardiovascular disease in Williams syndrome. Curr Opin Pediatr, 2018, 30(5): 609-615.
34. Owens EA, Jie L, Reyes BAS, et al. Elastin insufficiency causes hypertension, structural defects and abnormal remodelling of renal vascular signaling. Kidney Int, 2017, 92(5): 1100-1118.
35. Slove S, Lannoy M, Behmoaras J, et al. Potassium channel openersincrease aortic elastic fiber formation and reverse the genetically determined elastin deficit in the BN rat. Hypertension, 2013, 62(4): 794-801.
36. Coquand-Gandit M, Jacob MP, Fhayli W, et al. Chronic treatment with minoxidil induces elastic fiber neosynthesis and functional improvement in the aorta of aged mice. Rejuvenation Res, 2017, 20(3): 218-230.
37. Knutsen RH, Beeman SC, Broekelmann TJ, et al. Minoxidil improves vascularcompliance, restores cerebral blood flow and alters extracellular matrix geneexpression in a model of chronic vascular stiffness. Am J Physiol Heart Circ Physiol, 2018, 315(1): 18-32.
38. 王国华, 周诚, 苏伟, 等. Williams 综合征合并主动脉瓣上或(和)肺动脉狭窄的外科治疗. 中国循环杂志, 2017, 32(z1): 141.
39. 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.
40. Roemers R, Kluin J, de Heer F, et al. Surgical correction of supravalvar aorticstenosis: 52 years’ experience. World J Pediatr Congenit Heart Surg, 2018, 9(2): 131-138.
41. 解衍博, 吴信. 先天性主动脉瓣上狭窄的外科治疗. 中国循环杂志, 2015, 7: 710-713.
42. 孟强, 孙立忠, 常谦, 等. Williams 综合征合并先天性心血管病的外科治疗. 中华外科杂志, 2005, 43(10): 644-646.
43. Geggel RL, Gauvreau K, Lock JE. Balloon dilation angioplasty of peripheral pulmonary stenosis associated with Williams syndrome. Circulation, 2001, 103(17): 2165-2170.
44. Cunningham JW, McElhinney DB, Gauvreau K, et al. Outcomes after primary transcatheter therapy in infants and young children with severe bilateral peripheral pulmonary artery stenosis. Circ Cardiovasc Interv, 2013, 6(4): 460-467.
45. Mookerjee J, Roebuck D, Derrick G. Restenosis after aortic stenting. Cardiol Young, 2004, 14(2): 210-211.
46. Collins RT 2nd, Mainwaring RD, MacMillen KL, et al. Outcomes of pulmonary artery reconstruction in Williams syndrome. Ann Thorac Surg, 2019, 108(1): 146-153.
47. González-López MT, Pérez-Caballero-Martínez R, Granados-Ruiz MÁ, et al. End-stage ischemic heart failure and Williams-Beuren syndrome: A unique scenario for pediatric heart transplantation. Pediatr Transplant, 2016, 20(3): 472-476.

Chinese Journal of Clinical Thoracic and Cardiovascular Surgery

Research progress on Williams syndrome complicated with cardiovascular disease

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