Clinical characterization of the first Belgian SCN5A founder mutation cohort.
Ewa SieliwonczykMaaike AlaertsTomas RobynsDorien SchepersCharlotte ClaesAnniek CorveleynRik WillemsEmeline M Van CraenenbroeckEline SimonsAleksandra NijakBert VandendriesscheGeert MortierChristiaan VrintsPieter KoopmanHein HeidbuchelLut Van LaerJohan SaenenBart LoeysPublished in: Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology (2021)
The high prevalence of symptoms and sensitivity to sodium channel blockers in our founder population highlights the adverse effect of the founder mutation on cardiac conduction. The large phenotypical heterogeneity, variable penetrance, and even non-segregation suggest that other genetic (and environmental) factors modify the disease expression, severity, and outcome in these families.