Atrial septal defect in a pediatric patient with Williams Syndrome: a rare presentation.
Javier GrajedaAmir N MubarakJavier ArdebolGuillermo GrajedaPublished in: Journal of surgical case reports (2022)
Characterized by congenital heart defects (CHD) and elfin-like facies, Williams-Beuren syndrome (WS) is a multisystemic disorder that occurs approximately in 1 in 10 000 newborns [1]. WS is caused by a contiguous gene microdeletion of the Williams Beuren syndrome critical region (WBSCR) on chromosome 7q11.23, resulting in an abnormal elastin gene (ELN). There is a wide range of CHD in patients with WS, with supravalvular aortic stenosis (SAS) being the most common, and atypically the atrial septal defect (ASD) [2]. Few reports and reviews have linked the appearance of ASD to WS. Thus, data on the management of ASD secondary to WS is not well-documented. The following case report consists of the diagnosis and management of an ASD in a pediatric patient with WS.
Keyphrases
- case report
- autism spectrum disorder
- aortic stenosis
- attention deficit hyperactivity disorder
- ejection fraction
- transcatheter aortic valve replacement
- intellectual disability
- copy number
- aortic valve replacement
- transcatheter aortic valve implantation
- left ventricular
- atrial fibrillation
- genome wide
- emergency department
- left atrial
- heart failure
- systematic review
- gene expression
- dna methylation
- working memory
- big data
- electronic health record
- catheter ablation
- adverse drug
- meta analyses