Characterising heart rhythm abnormalities associated with Xp22.31 deletion.
Georgina H WrenEmily SimmondsJack F G UnderwoodTrevor HumbyAndrew R ThompsonGeorge KirovValentina Escott-PriceWilliam DaviesPublished in: Journal of medical genetics (2022)
Our data suggest AHRs are frequently associated with Xp22.31 deletion, and highlight subgroups of deletion carriers that may be prioritised for screening. Examining cardiac function further in deletion carriers, and in model systems lacking steroid sulfatase, may clarify AF pathophysiology.