Preferences regarding preconceptional and genetic counselling and pregnancy check-ups among women with the PLN p. (Arg14del) variant

Pregnant women with cardiomyopathy have an elevated risk for worsening heart failure, arrhythmias, and thromboembolic events [ 1 ]. Moreover, the offspring of these mothers with cardiomyopathy are at increased risk for adverse outcomes, including iatrogenic preterm birth, fetal growth restriction, and respiratory distress [ 2 ]. Therefore, the management strategy of these women in pregnancy requires careful monitoring and individualized therapeutic options to ensure the well-being of the mother and foetus. A specific genetic form of cardiomyopathy, caused by a variant in the phospholamban (PLN) gene, is predominantly seen in the Netherlands, the PLN p. (Arg14del) variant. Recently, preimplantation genetic testing (PGT) became available for PLN variant carriers, and the number of PGT requests for inherited cardiac diseases has increased rapidly [ 3 ]. Preconceptional and genetic counselling can help navigate within the complex interplay of potential cardiomyopathy-related health issues and pregnancy. However, the specific preferences of women with the PLN variant regarding these topics have not been studied yet.