In patient 26, a female presenting with polycystic kidney disease and noncompaction cardiomyopathy, WES revealed pathogenic variants in PKD1 (p.Cys3081Arg) (Polycystic kidney disease 1, MIM: 173900) and TTN (p.Trp16598Ter) (Cardiomyopathy, dilated, 1G, MIM: 604145). Here, PKD1 is linked to polycystic kidney disease.