Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome.

Sara B StephensTyler NovyGabrielle N SpurzemBenjamin JacobTaylor Beecroft Emily Soludczyk Beth A Kozel Justin D Weigand Shaine Alaine Morris

Published in: Journal of the American Heart Association (2024)

gene. Therefore, we recommend gene sequencing using a multigene panel or exome analysis. Hypercholesterolemia can also be considered in individuals bearing the stigmata of this disease.

Keyphrases

aortic stenosis
copy number
transcatheter aortic valve replacement
ejection fraction
aortic valve replacement
transcatheter aortic valve implantation
aortic valve
genome wide
left ventricular
genome wide identification
single cell
coronary artery disease
case report
type diabetes
gene expression
data analysis