Broad spectrum of anomalies including quadricuspid aortic valve associated with a novel frameshift SALL4 variant.

Piranit Nik KantaputraKittikhoon BuabanNapaphat ThongseeMassupa KaewgahyaNatalina QuartoBruce M CarlsonChumpol NgamphiwSissades Tongsima

Published in: Clinical genetics (2023)

Each family member had a SALL4 variant. This is the first report of quadricuspid aortic valve and a genetic variant. The variation in phenotype caused by SALL4 mutations questions the division of SALL4-related phenotypes in three different entities.

Keyphrases

aortic valve
transcatheter aortic valve replacement
transcatheter aortic valve implantation
aortic valve replacement
aortic stenosis
heart failure
gene expression
copy number
ejection fraction