Familial Williams–Beuren syndrome ascertained by screening rather than targeted diagnosis

Rafati, Maryam; Seyyedaboutorabi, Elaheh; Brujerdi, Razieh; Moossavi, Shirin; Ghaffari, Saeed Reza

doi:10.1097/mcd.0b013e3283520539

Cited by 3 publications

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“…It is characterized by typical facial features, intellectual disability, hypercalcemia, an outgoing and friendly personality, and cardiovascular defects (CVDs) [ 2 , 3 , 4 , 5 ], with a prevalence rate of approximately 1 per 10,000 live births [ 6 ]. Most cases are sporadic, but a few familial cases have been reported [ 7 , 8 , 9 , 10 ]. In WS, the length of the microdeletion in chromosome 7q11.23 is 1.4–1.8 Mb, and it contains approximately 26–28 genes, including the ELN gene.…”

Section: Introductionmentioning

confidence: 99%

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

Lee

Lin

Chen

et al. 2022

JPM

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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.

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Section: Introductionmentioning

confidence: 99%

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

Lee

Lin

Chen

et al. 2022

JPM

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“…It is estimated to occur in one out of every 10,000 live births (Strømme, Bjømstad, & Ramstad, 2002). Most cases are sporadic but there are a few reports of familial cases (Osborne et al, 2001; Pankau et al, 2001; Parlak et al, 2014; Rafati, Seyyedaboutorabi, Brujerdi, Moossavi, & Ghaffari, 2012). This syndrome is the result of a deletion of 1.4–1.8 Mb in chromosome 7 (7q11.23) containing approximately 26–28 genes, including the ELN gene.…”

Section: Introductionmentioning

confidence: 99%

Cardiovascular findings in Williams–Beuren Syndrome: Experience of a single center with 127 cases

Honjo

Monteleone

Aiello

et al. 2021

American J of Med Genetics Pt A

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Williams-Beuren syndrome (WBS) is a rare, microdeletion syndrome characterized by facial dysmorphisms, intellectual disability, a friendly personality, cardiovascular and other abnormalities. Cardiovascular defects (CVD) are among the most prevalent characteristics in WBS, being supravalvular aortic stenosis (SVAS) the most frequent, followed by peripheral pulmonary stenosis (PPS). A comprehensive retrospective review of medical records of 127 patients with molecular diagnosis of WBS, in a period of 20 years, was done to evaluate the incidence, the natural history of cardiovascular disease, and the need for surgical intervention, including heart transplantation (HT). A total of 94/127 patients presented with CVD. Of these 94 patients, 50% presented with SVAS and 22.3% needed heart surgery and/or cardiac catheterization including one that required HT due to severe SVAS-related heart failure at 19 years of age. The patient died in the postoperative period due to infectious complications. Cardiovascular problems are the major cause of sudden death in patients with WBS, who have a significantly higher mortality risk associated with surgical interventions.There is a higher risk for anesthesia-related adverse events and for major adverse cardiac events following surgery. End-stage heart failure due to myocardial ischemia has been described in WBS patients and it is important to consider that HT can become their only viable option. To our knowledge, the case mentioned here is the first HT reported in an adolescent with WBS. HT can be a viable therapeutic option in WBS patients with adequate evaluation, planning, and a multidisciplinary team to provide the required perioperative care and follow-up.

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Clinical expression of familial Williams-Beuren syndrome in a Turkish family

Parlak

Nur

Mıhçı

et al. 2014

Journal of Pediatric Endocrinology and Metabolism

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Williams-Beuren syndrome (WBS) is a rare genetic disorder characterized by distinctive facial features, intellectual disability with a typical neurobehavioral profile, cardiovascular anomalies, and occasional infantile hypercalcemia. Majority of cases occur sporadically, and only a few cases of familial WBS have been reported. Although pre- and post-natal growth retardation is a common clinical feature of the syndrome, growth hormone deficiency is detected only in a few patients. To our knowledge, there has only been one report about familial Williams-Beuren syndrome in the Turkish population. Here, we report on the three molecular cytogenetically confirmed familial Williams-Beuren syndromes detected in a family with familial short stature. The father, daughter, and son analyzed with clinical and laboratory findings, and reasons of the short stature in Williams-Beuren syndrome are discussed through the literature.

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Familial Williams–Beuren syndrome ascertained by screening rather than targeted diagnosis

Cited by 3 publications

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

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

Cardiovascular findings in Williams–Beuren Syndrome: Experience of a single center with 127 cases

Clinical expression of familial Williams-Beuren syndrome in a Turkish family

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