Among patients in this cohort, three had compound heterozygous mutations in RYR1 (Y246C/P3429H; R1231H/R3672S; P429L/A882V, and their cardiac phenotypes were TGA in the former and LVOTO (left ventricular outflow tract obstruction), in the latter two patients (Jin et al., 2017). Here, RYR1 is linked to transposition of the great arteries.