Williams-Beuren syndrome: cardiovascular abnormalities in 20 patients diagnosed with fluorescence in situ hybridization

Sugayama, Sofia Mizuho Miura; Moisés, Regina Lúcia; Wagënfur, Jaqueline; Ikari, Nana Miura; Abe, Kikue Terada; Leone, Cláudio; Silva, Clóvis Artur Almeida da; Chauffaille, Maria de Lourdes Lopes Ferrari; Chong, Ae Kim

doi:10.1590/s0066-782x2003001300003

Cited by 28 publications

(18 citation statements)

References 19 publications

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“…Pober 1 found that patients with WS were at an increased risk for major adverse cardiac events, and congenital cardiovascular disease was responsible for most of the morbidity associated with WS. A follow-up study by Sugayama et al 51 illustrated that major adverse cardiac events occurred after 41 out of 447 procedures (9%), including 20 deaths, 25 episodes of postoperative mechanical circulatory support, and 14 postoperative cardiac arrests. SVAS with significant pressure gradients posed sufficient risk of sudden death.…”

Section: Adverse Cardiac Eventsmentioning

confidence: 99%

Congenital heart defects in Williams syndrome

Yuan¹

2017

Turk J Pediatr

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Williams syndrome (WS), also known as Williams-Beuren syndrome, is a rare genetic disorder involving multiple systems including the circulatory system. However, the etiologies of the associated congenital heart defects in WS patients have not been sufficiently elucidated and represent therapeutic challenges. The typical congenital heart defects in WS were supravalvar aortic stenosis, pulmonary stenosis (both valvular and peripheral), aortic coarctation and mitral valvar prolapse. The atypical cardiovascular anomalies include tetralogy of Fallot, atrial septal defects, aortic and mitral valvular insufficiencies, bicuspid aortic valves, ventricular septal defects, total anomalous pulmonary venous return, double chambered right ventricle, Ebstein anomaly and arterial anomalies. Deletion of the elastin gene on chromosome 7q11.23 leads to deficiency or abnormal deposition of elastin during cardiovascular development, thereby leading to widespread cardiovascular abnormalities in WS. In this article, the distribution, treatment and surgical outcomes of typical and atypical cardiac defects in WS are discussed.

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Section: Adverse Cardiac Eventsmentioning

confidence: 99%

Congenital heart defects in Williams syndrome

Yuan¹

2017

Turk J Pediatr

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“…11 The authors 11 This work was followed by studies on cardiovascular abnormalities, renal and urinary findings, voiding-dysfunction, cognitive and behavioral phenotype, body mass index and anthropometric measurements. [14][15][16][17][18] However, no other report of ophthalmologic findings in a Brazilian population has been published.…”

Section: Discussionmentioning

confidence: 99%

Ocular Features in 16 Brazilian Patients with Williams-Beuren Syndrome

Viana

Frasson

Galvão

et al. 2014

Ophthalmic Genetics

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“…Arterial systemic hypertension is rather frequent in these patients (8% -20%, usually seen in older patients), and all WB-S should be screened periodically. Overall, there are very few cases of WB-S and TOF described in literature [3][4][5][6].…”

Section: Discussionmentioning

confidence: 99%

Williams-Beuren syndrome: Usual face, unusual heart

Huarte¹,

Garcı́a-Guereta²,

Lapunzina³

2013

OJGen

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Williams-Beuren Syndrome (WB-S) occurs in approximately 1/7500 live births. It is characterized by typical facial features, congenital heart defects and mild mental retardation. Around 75% - 80% of all patients have some kind of cardiovascular disorder being supravalvular aortic stenosis and pulmonary artery stenosis the most frequent. This syndrome is due to a contiguous gene deletion (1- to 2-megabase deletion on the long arm of chromosome 7), including the entire elastin gene and 20 additional genes. We present a case of a two year old boy with WB-S and Tetralogy of Fallot, a very infrequent association. Diagnosis of WB-S could be made because of typical facial features. Characteristic WB-S deletion was present. Genetic study to rule out 22q11 deletion was also performed.

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Williams-Beuren syndrome: cardiovascular abnormalities in 20 patients diagnosed with fluorescence in situ hybridization

Cited by 28 publications

References 19 publications

Congenital heart defects in Williams syndrome

Congenital heart defects in Williams syndrome

Ocular Features in 16 Brazilian Patients with Williams-Beuren Syndrome

Williams-Beuren syndrome: Usual face, unusual heart

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