Recurrent and founder mutations in the Netherlands – Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy*

Abstract

Background Recently, we showed that the c.40_42delAGA (p.Arg14del) mutation in the phospholamban (PLN) gene can be identified in 10-15 % of Dutch patients with dilated cardiomyopathy or arrhythmogenic cardiomyopathy. The arrhythmogenic burden of the p.Arg14del mutation was illustrated by the high rate of appropriate ICD discharges and a positive family history for sudden cardiac death. Methods Our goal was to evaluate the geographical distribution and the origin of this specific mutation in the Netherlands and to get an estimation of the prevalence in a Dutch population cohort. Therefore, we investigated the postal codes of the places of residence of PLN p.Arg14del P. A. van der Zwaag (*) : P. van der Harst : J.

Istaroxime treatment ameliorates calcium dysregulation in a zebrafish model for Phospholamban R14del cardiomyopathy

“…PLN mutations, including PLN R14del, have also been detected in several other countries, including Canada, the USA, Spain, Germany, and Greece 5–8 . Patient phenotypes are very heterogeneous, not only between families but also within families 9,10 . Up to today, no homozygous carriers have been identified 11 .…”