Long-Term Cardiovascular Findings in Williams Syndrome: A Single Medical Center Experience in Taiwan

Williams syndrome (WS) is a rare genetic disorder caused by the microdeletion of chromosome 7q11.23. Cardiovascular defects (CVDs) are the leading causes of morbidity and mortality in patients with WS. The most common CVD in patients with WS is supravalvular aortic stenosis (SVAS), which recovers spontaneously similar to branch pulmonary stenosis (PS). Recently, conventional beliefs, such as SVAS improving rather than worsening in WS, have been challenged. This study thoroughly reviews the medical records of 30 patients with a molecular diagnosis of WS. We followed up these patients at Taipei MacKay Memorial Hospital from January 1999 to December 2021. The long-term outcomes of cardiovascular lesions as well as the change in peak pressure gradient in obstructive cardiovascular lesions over time were studied. Among these 30 patients, the most common cardiovascular lesion was SVAS (50.0%), followed by branch PS (36.7%). During the follow-up period, severe SVAS was aggravated (p = 0.021). The peak pressure gradient decreased from 38.4 to 25.3 mmHg (p = 0.001) in patients with branch PS. Among patients with WS, those with severe SVAS deteriorated over time, whereas those with branch PS improved on their own. In patients with WS who presented with branch PS, no disease-specific intervention was needed.

[1]  C. Kim,et al.  Cardiovascular findings in Williams–Beuren Syndrome: Experience of a single center with 127 cases , 2021, American journal of medical genetics. Part A.

[2]  E. Bae,et al.  Long-term cardiovascular outcome of Williams syndrome. , 2019, Congenital heart disease.

[3]  R. Collins,et al.  Cardiovascular disease in Williams syndrome , 2018, Current opinion in pediatrics.

[4]  E. Zucker.  Syndromes with aortic involvement: pictorial review. , 2018, Cardiovascular diagnosis and therapy.

[5]  S. Yuan.  Congenital heart defects in Williams syndrome. , 2017, The Turkish journal of pediatrics.

[6]  M. Jacobs,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. , 2015, The Journal of thoracic and cardiovascular surgery.

[7]  S. Akçurin,et al.  Clinical expression of familial Williams-Beuren syndrome in a Turkish family , 2014, Journal of pediatric endocrinology & metabolism : JPEM.

[8]  C. Fowler,et al.  Williams-Beuren syndrome. , 2010, The New England journal of medicine.

[9]  S. Moossavi,et al.  Familial Williams–Beuren syndrome ascertained by screening rather than targeted diagnosis , 2012, Clinical dysmorphology.

[10]  R. Collins.  Mitral valve diseases in Williams syndrome-case report and review of the literature. , 2012, Echocardiography.

[11]  S. Bhatnagar,et al.  Mitral Valve Diseases in Williams Syndrome—Case Report and Review of the Literature , 2011, Echocardiography.

[12]  P. Kaplan,et al.  Long-term outcomes of patients with cardiovascular abnormalities and williams syndrome. , 2010, The American journal of cardiology.

[13]  S. Mondillo,et al.  New Findings concerning Cardiovascular Manifestations emerging from Long-term Follow-up of 150 patients with the Williams-Beuren-Beuren syndrome , 2009, Cardiology in the Young.

[14]  L. Rodríguez,et al.  Cardiovascular spectrum in Williams-Beuren syndrome: the Mexican experience in 40 patients. , 2008, Texas Heart Institute journal.

[15]  W. Hwu,et al.  Outcome of pulmonary and aortic stenosis in Williams‐Beuren syndrome in an Asian cohort , 2007, Acta paediatrica.

[16]  Z. Vajo,et al.  Echocardiographic findings in patients with Williams-Beuren syndrome , 2006, Wiener klinische Wochenschrift.

[17]  L. Alday,et al.  Cardiovascular findings, and clinical course, in patients with Williams syndrome , 2003, Cardiology in the Young.

[18]  M. Kähkönen,et al.  Cardiovascular manifestations in 75 patients with Williams syndrome , 2002, Journal of medical genetics.

[19]  P. Strømme,et al.  Prevalence Estimation of Williams Syndrome , 2002, Journal of child neurology.

[20]  Stephen W. Scherer,et al.  A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome , 2001, Nature Genetics.

[21]  C J Partsch,et al.  Familial Williams-Beuren syndrome showing varying clinical expression. , 2001, American journal of medical genetics.

[22]  Y. T. Lee,et al.  Natural course of supravalvar aortic stenosis and peripheral pulmonary arterial stenosis in Williams‘ syndrome , 1999, Cardiology in the Young.

[23]  Charles E. Kahn,et al.  Williams elfin-facies syndrome , 1995 .

[24]  A. Wessel,et al.  Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome. , 1994, American journal of medical genetics.

[25]  C. Wren,et al.  Natural history of supravalvular aortic stenosis and pulmonary artery stenosis. , 1990, Journal of the American College of Cardiology.

[26]  J. Finley,et al.  The natural course of supravalvar aortic stenosis and peripheral pulmonary artery stenosis in Williams's syndrome. , 1989, British heart journal.

[27]  C A Morris,et al.  Natural history of Williams syndrome: physical characteristics. , 1988, The Journal of pediatrics.

[28]  S. Karas,et al.  Cardiac anomalies in Williams-Beuren syndrome. , 1988, Archives of disease in childhood.

[29]  David W. Smith,et al.  The Williams elfin facies syndrome. A new perspective. , 1975, The Journal of pediatrics.

[30]  A. Beuren,et al.  Supravalvular Aortic Stenosis in Association with Mental Retardation and a Certain Facial Appearance , 1962, Circulation.

[31]  J. Denie,et al.  Supravalvular Aortic Stenosis , 1958, Circulation.