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Cardiovascular findings in Williams-Beuren Syndrome: Experience of a single center with 127 cases. | LitMetric

AI Article Synopsis

  • - Williams-Beuren syndrome (WBS) is a rare genetic disorder marked by facial features, intellectual disability, a friendly demeanor, and significant cardiovascular issues, particularly supravalvular aortic stenosis (SVAS).
  • - A study of 127 WBS patients over 20 years found that 74% had cardiovascular defects, with nearly one-quarter requiring surgical procedures, including one case of heart transplantation due to severe heart failure.
  • - Cardiovascular complications are a leading cause of mortality in WBS patients, highlighting the importance of careful surgical planning, monitoring, and multidisciplinary care for those requiring heart surgeries.

Article Abstract

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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Source
http://dx.doi.org/10.1002/ajmg.a.62542DOI Listing

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