Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome.
Sara B StephensTyler NovyGabrielle N SpurzemBenjamin JacobTaylor BeecroftEmily SoludczykBeth A KozelJustin D WeigandShaine Alaine MorrisPublished 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
- aortic valve
- transcatheter aortic valve implantation
- genome wide
- left ventricular
- genome wide identification
- coronary artery disease
- type diabetes
- single cell
- dna methylation
- cardiovascular disease
- case report
- heart failure
- gene expression
- genome wide analysis