Methods
During the genetic counselling, informed consent was obtained from all family members for molecular analysis and publication of the data. DNA was first extracted from peripheral blood of the index and his affected sister according to standard protocol. By comparing the whole exome of the index and of his sister 981 shared variants were identified. Variants with a low PhyloP value (<2.0, indicating weak evolutionary conservation) and a high frequency in population databases (>0.02%) and our in-house database (≥20 hits) were excluded. This resulted in 27 remaining shared variants, which were further analysed. Of these 27 variants, only one gene was known to be associated with cardiac development and valve abnormalities, namely thePDLIM7 gene.