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

Autor: Honjo RS; Genetics Unit, Instituto da Criança do Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil., Monteleone VF; Genetics Unit, Instituto da Criança do Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil., Aiello VD; Pathology Laboratory, Instituto do Coração do Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil., Wagenfuhr J; Pediatric Cardiology Unit, Instituto da Criança do Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil., Issa VS; Antwerp University Hospital, Antwerp, Belgium., Pomerantzeff PMA; Heart Transplantation Unit, Instituto do Coraçao do Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil., Furusawa EA; Pediatric Nephrology Unit, Instituto da Criança do Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil., Zanardo EA; Cytogenomic Laboratory, LIM 03, Pathology Department, Faculdade de Medicina HC-FMUSP, Universidade de Sao Paulo, Sao Paulo, Brazil., Kulikowski LD; Cytogenomic Laboratory, LIM 03, Pathology Department, Faculdade de Medicina HC-FMUSP, Universidade de Sao Paulo, Sao Paulo, Brazil., Bertola DR; Genetics Unit, Instituto da Criança do Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil., Kim CA; Genetics Unit, Instituto da Criança do Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Feb; Vol. 188 (2), pp. 676-682. Date of Electronic Publication: 2021 Oct 29.
DOI: 10.1002/ajmg.a.62542
Abstrakt: 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.
(© 2021 Wiley Periodicals LLC.)
Databáze: MEDLINE
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