Characterising heart rhythm abnormalities associated with Xp22.31 deletion

Conclusion
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.

Source: Journal of Medical Genetics - June 21, 2023 Category: Genetics & Stem Cells Authors: Wren, G., Baker, E., Underwood, J., Humby, T., Thompson, A., Kirov, G., Escott-Price, V., Davies, W. Tags: Open access Genotype-phenotype correlations Source Type: research