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

Parlak, Mesut; Nur, Banu; Mıhçı, Ercan; Durmaz, Erdem; Karaüzüm, Sibel Berker; Akçurin, Sema; Bircan, İffet

doi:10.1515/jpem-2013-0167

Cited by 3 publications

(3 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…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

View full text Add to dashboard Cite

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.

show abstract

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

View full text Add to dashboard Cite

show abstract

“…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

View full text Add to dashboard Cite

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.

show abstract

“…This region is flanked by low copy repeats (LCRs) that can mediate nonallelic homologous recombination resulting from a misalignment of LCRs during meiosis (Savina et al, 2011). Moreover, clear Mendelian inheritance for WBS has been observed in a small proportion of patients with a family history of the disease (Parlak et al, 2014).…”

Section: Introductionmentioning

confidence: 99%

Clinical application of chromosomal microarray analysis for the diagnosis of Williams–Beuren syndrome in Chinese Han patients

Xia

Huang

et al. 2018

Molec Gen & Gen Med

View full text Add to dashboard Cite

Background Williams–Beuren syndrome (WBS; OMIM #194,050) is a rare multisystem disorder of a variable phenotypic spectrum caused by a heterozygous microdeletion in the WBS chromosome region (WBSCR) in 7q11.23. Methods We screened 38 Chinese Han patients with suspected WBS using chromosomal microarray analysis (CMA). Results Pathogenic CNVs were identified in 34 of the patients, including 29 cases with a typical 7q11.23 microdeletion, three cases with atypical copy number variations (CNVs) within the WBS chromosome region and two cases with CNVs associated with other known syndromes. All 29 WBS patients with a typical microdeletion exhibited distinctive facial dysmorphisms and developmental delay. We observed that the incidence of pulmonary abnormalities was slightly higher than that of aortic abnormalities. We also found long philtrum and prominent lips with a thick lip that may warrant suspicion of WBS in the Chinese Han patients. Conclusion CMA facilitates diagnosis in individuals with classic/nonclassic features of WBS and demonstrated that when Chinese Han patients present with a less classical phenotype, such as pulmonary abnormalities, this may raise suspicion for a WBS diagnosis and suggest a referral for a genetics evaluation for a differential diagnosis.

show abstract

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

Cited by 3 publications

References 17 publications

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 application of chromosomal microarray analysis for the diagnosis of Williams–Beuren syndrome in Chinese Han patients

Contact Info

Product

Resources

About