The identified VUS were distributed among 9 of the subjects under study (Fig. 1) and corresponded to the genes encoding proteases F2, PLAT and PSEN2; the ECM components ECM1, FN1, HSPG2 and MMP9; the extracellular chaperones FGA and FGB; the genes CP and TF, previously found altered in cardiac ATTR amyloidosis [9, 10]; and the genes ABCA1, APP and GC, found altered in Alzheimer’s disease [11–13]. This evidence concerns the gene PSEN2 and early-onset autosomal dominant Alzheimer disease.