TTR and familial cardiomyopathy: To identify the potential genetic defects responsible for the observed cardiac phenotype, a commercial panel of the Personal Genome Machine (from Thermo Fisher Scientific) was used to perform targeted sequence analysis of 216 genes related to hereditary cardiomyopathy or channelopathies, including AARS2, CACNA2D1, PSEN2, TTR, TMPO, etc. The heterozygous variant c.274G > T; p.Gly92Cys (rs1201669937) in the TMPO gene (NM_003276) was detected by targeted sequencing of the proband and her father, second uncle, third uncle, and daughter (Table 1).