The genetic diagnosis of patients with suspected FH could be improved by extending the analysis to the 3′UTR regions of the main genes associated with FH, such are LDLR and PCSK9. In our study, 30 of the 409ç patients carried low-frequency variants in these regions, several of which could have pathogenic potential according to the in silico and functional studies. Here, LDLR is linked to familial hyperaldosteronism.