4 Predictive genetic testing in inherited cardiac conditions: findings from a large Irish cohort

3 Figure 2 Freedom from atrial fibrillation in patients with and without atrial uptake Abstracts Heart 2021;107(Suppl 2):A1–A59 A5 on O cber 3, 2021 by gest. P rocted by coright. httpeart.bm jcom / H ert: frst pulished as 10.1136artjnl-2021-IC S .4 on 7 O cber 221. D ow nladed fom genes (MYL3, TPM1, ACTC1), in addition to the desmosomal genes DSG2, DSC2 and JUP. Conclusion Predictive testing has potentially allowed up to 789 genotype-negative individuals (and their offspring) to be reassured and discharged from long term cardiac follow-up. Our data suggests adult females are more forthcoming for predictive testing than their male counterparts. The absence of testing for several cardiomyopathy genes suggests low frequency or low penetrance of these variants in the Irish population. The large size of families in our cohort represents an opportunity to develop gene penetrance and genotype-phenotype correlation data to assist in clinical management of genotype-positive individuals.