Identification and characterization of novel elastin gene mutations in eleven families with supravalvular aortic stenosis.

ABSTRACT: Background: Supravalvular aortic stenosis (SVAS) is a rare congenital heart disease affecting approximately 1 in 25,000 live births. In some patients it is accompanied by pulmonary artery stenosis, particularly of pulmonary artery branches. Chronic stenosis can lead to cardiac hypertrophy and even circulatory failure. Familial autosomal dominant SVAS is frequently associated with elastin (ELN) gene mutations, whereas Williams-Beuren syndrome is a complex developmental disorder caused by heterozygous microdeletions of 26-28 genes at 7q11.23, including ELN. Methods: Whole-exome sequencing was performed in 42 individuals from 11 Chinese families with SVAS to identify the pathogenic gene mutations involved. Aortic tissue was obtained for histological analyses, and quantitative re

SUBMITTER: Zhou J 

PROVIDER: S-EPMC9742416 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature