The frequency and efficacy of genetic testing in individuals with scimitar syndrome.

Tyler A FickDaryl A ScottPhilip J LupoJustin WeigandShaine Alaine Morris

Published in: Cardiology in the young (2021)

Genetic testing revealed an underlying diagnosis in roughly 40% of those tested. Given the relatively high prevalence of pathogenic variants, we recommend chromosomal microarray analysis and whole-exome sequencing for patients with scimitar syndrome and extracardiac defects.

Keyphrases

copy number
case report
single cell
gene expression
dna methylation