Besides LDLR, APOB and PCSK9 mutations, some copy number variants (CNVs) (Myocardial Infarction Genetics, Kathiresan et al. 2009; Costelloe et al. 2012) and rare mutations in associated genes, such as LDLRAP1 (Maglio et al. 2014), PNPLA5 (Lange et al. 2014) and APOC3 (Jorgensen et al. 2014) have also been reported in FH patients. This evidence concerns the gene LDLR and familial hyperaldosteronism.