A family with a new elastin gene mutation: broad clinical spectrum, including sudden cardiac death.

Details

Serval ID
serval:BIB_706F42E8E879
Type
Article: article from journal or magazin.
Collection
Publications
Title
A family with a new elastin gene mutation: broad clinical spectrum, including sudden cardiac death.
Journal
Cardiology in the Young
Author(s)
Jakob A., Unger S., Arnold R., Grohmann J., Kraus C., Schlensak C., Stiller B.
ISSN
1467-1107 (Electronic)
ISSN-L
1047-9511
Publication state
Published
Issued date
2011
Peer-reviewed
Oui
Volume
21
Number
1
Pages
62-65
Language
english
Notes
Publication types: Comparative Study ; Journal Article Publication Status: ppublish
Abstract
Supravalvular aortic stenosis is associated with the Williams-Beuren syndrome, but it also occurs in a non-syndromatic congenital form. An elastin gene mutation of chromosome 7q11.23 is responsible in both cases. The vascular features are identical. These patients have a higher risk of sudden death, particularly when undergoing diagnostic or surgical procedures. We report the account of a family with a new mutation in the elastin gene. Screening over three generations revealed eight affected individuals. The cardiac and vascular malformations ranged from mild asymptomatic supravalvular aortic stenosis and isolated dysplastic atrioventricular valves to diffuse arterial hypoplasia. Two infants presented arteries affected at multiple locations, including the left coronary artery. Both died of sudden cardiac death and myocardial ischaemia, one while under general anaesthesia for cardiac catheterisation, and the other perioperatively. We discuss the pathophysiological aspects in these patients that deserve consideration before any general anaesthesia is administered.
Keywords
Child, Child, Preschool, DNA/genetics, Death, Sudden, Cardiac, Disease Progression, Elastin/genetics, Exons, Family, Female, Genetic Predisposition to Disease, Heart Defects, Congenital/genetics, Humans, Infant, Male, Mutation, Pedigree, Phenotype
Pubmed
Web of science
Create date
20/06/2015 12:08
Last modification date
20/08/2019 14:29
Usage data