Aortopathy in the 7q11.23 microduplication syndrome. Am J Med Genet A 2015 Feb;167A(2):363-70
Date
11/28/2014Pubmed ID
25428557DOI
10.1002/ajmg.a.36859Scopus ID
2-s2.0-84921418291 (requires institutional sign-in at Scopus site) 31 CitationsAbstract
The 7q11.23 microduplication syndrome, caused by the reciprocal duplication of the Williams-Beuren syndrome deletion region, is a genomic disorder with an emerging clinical phenotype. Dysmorphic features, congenital anomalies, hypotonia, developmental delay highlighted by variable speech delay, and autistic features are characteristic findings. Congenital heart defects, most commonly patent ductus arteriosus, have been reported in a minority of cases. Included in the duplicated region is elastin (ELN), implicated as the cause of supravalvar aortic stenosis in patients with Williams-Beuren syndrome. Here we present a series of eight pediatric patients and one adult with 7q11.23 microduplication syndrome, all of whom had aortic dilation, the opposite vascular phenotype of the typical supravalvar aortic stenosis found in Williams-Beuren syndrome. The ascending aorta was most commonly involved, while dilation was less frequently identified at the aortic root and sinotubular junction. The findings in these patients support a recommendation for cardiovascular surveillance in patients with 7q11.23 microduplication syndrome.
Author List
Parrott A, James J, Goldenberg P, Hinton RB, Miller E, Shikany A, Aylsworth AS, Kaiser-Rogers K, Ferns SJ, Lalani SR, Ware SMMESH terms used to index this publication - Major topics in bold
AdolescentAdult
Aorta
Child
Child, Preschool
Chromosome Disorders
Chromosome Duplication
Chromosomes, Human, Pair 7
Female
Humans
Infant
Male
Pedigree
Phenotype
Syndrome
Ultrasonography
Young Adult
